Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3644615

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:42,878

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 398 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):49,131,337-49,174,514

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3644615	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	49,131,487 (-150, +150)	49,174,364 (-150, +150)
esv3644615	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	49,634,744 (-150, +150)	49,677,621 (-150, +150)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16075180	duplication	SAMN00016974	Sequencing	Read depth and paired-end mapping	Heterozygous	2,666
essv16075181	duplication	SAMN00006378	Sequencing	Read depth and paired-end mapping	Heterozygous	2,702
essv16075182	duplication	SAMN00006419	Sequencing	Read depth and paired-end mapping	Heterozygous	2,762
essv16075183	duplication	SAMN00630204	Sequencing	Read depth and paired-end mapping	Heterozygous	3,157
essv16075184	duplication	SAMN01036779	Sequencing	Read depth and paired-end mapping	Heterozygous	3,152
essv16075185	duplication	SAMN01761250	Sequencing	Read depth and paired-end mapping	Heterozygous	3,382
essv16075186	duplication	SAMN00801650	Sequencing	Read depth and paired-end mapping	Heterozygous	2,716

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16075180	Remapped	Perfect	NC_000019.10:g.(49 131337_49131637)_( 49174214_49174514) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,131,487 (-150, +150)	49,174,364 (-150, +150)
essv16075181	Remapped	Perfect	NC_000019.10:g.(49 131337_49131637)_( 49174214_49174514) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,131,487 (-150, +150)	49,174,364 (-150, +150)
essv16075182	Remapped	Perfect	NC_000019.10:g.(49 131337_49131637)_( 49174214_49174514) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,131,487 (-150, +150)	49,174,364 (-150, +150)
essv16075183	Remapped	Perfect	NC_000019.10:g.(49 131337_49131637)_( 49174214_49174514) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,131,487 (-150, +150)	49,174,364 (-150, +150)
essv16075184	Remapped	Perfect	NC_000019.10:g.(49 131337_49131637)_( 49174214_49174514) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,131,487 (-150, +150)	49,174,364 (-150, +150)
essv16075185	Remapped	Perfect	NC_000019.10:g.(49 131337_49131637)_( 49174214_49174514) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,131,487 (-150, +150)	49,174,364 (-150, +150)
essv16075186	Remapped	Perfect	NC_000019.10:g.(49 131337_49131637)_( 49174214_49174514) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,131,487 (-150, +150)	49,174,364 (-150, +150)
essv16075180	Submitted genomic		NC_000019.9:g.(496 34594_49634894)_(4 9677471_49677771)d up	GRCh37 (hg19)		NC_000019.9	Chr19	49,634,744 (-150, +150)	49,677,621 (-150, +150)
essv16075181	Submitted genomic		NC_000019.9:g.(496 34594_49634894)_(4 9677471_49677771)d up	GRCh37 (hg19)		NC_000019.9	Chr19	49,634,744 (-150, +150)	49,677,621 (-150, +150)
essv16075182	Submitted genomic		NC_000019.9:g.(496 34594_49634894)_(4 9677471_49677771)d up	GRCh37 (hg19)		NC_000019.9	Chr19	49,634,744 (-150, +150)	49,677,621 (-150, +150)
essv16075183	Submitted genomic		NC_000019.9:g.(496 34594_49634894)_(4 9677471_49677771)d up	GRCh37 (hg19)		NC_000019.9	Chr19	49,634,744 (-150, +150)	49,677,621 (-150, +150)
essv16075184	Submitted genomic		NC_000019.9:g.(496 34594_49634894)_(4 9677471_49677771)d up	GRCh37 (hg19)		NC_000019.9	Chr19	49,634,744 (-150, +150)	49,677,621 (-150, +150)
essv16075185	Submitted genomic		NC_000019.9:g.(496 34594_49634894)_(4 9677471_49677771)d up	GRCh37 (hg19)		NC_000019.9	Chr19	49,634,744 (-150, +150)	49,677,621 (-150, +150)
essv16075186	Submitted genomic		NC_000019.9:g.(496 34594_49634894)_(4 9677471_49677771)d up	GRCh37 (hg19)		NC_000019.9	Chr19	49,634,744 (-150, +150)	49,677,621 (-150, +150)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI