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dbVar

Database of genomic structural variation

esv32918

Organism: Homo sapiens

Study:estd24 (de Smith et al. 2007)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:260

Publication(s):de Smith et al. 2007

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: 129 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):30,375,061-30,375,320

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv32918	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	30,375,061	30,375,320
esv32918	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	30,865,968	30,866,227
esv32918	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000019.8	Chr19	35,557,808	35,558,067

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv101347	copy number loss	21805	Oligo aCGH	Probe signal intensity	154
essv94150	copy number loss	22394	Oligo aCGH	Probe signal intensity	161
essv96247	copy number loss	22371	Oligo aCGH	Probe signal intensity	177
essv97829	copy number gain	21837	Oligo aCGH	Probe signal intensity	179
essv97997	copy number loss	22259	Oligo aCGH	Probe signal intensity	159

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv101347	Remapped	Perfect	NC_000019.10:g.(30 374652_30375061)_( 30375320_30375767) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	30,374,652	30,375,061	30,375,320	30,375,767
essv94150	Remapped	Perfect	NC_000019.10:g.(30 374652_30375061)_( 30375320_30375767) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	30,374,652	30,375,061	30,375,320	30,375,767
essv96247	Remapped	Perfect	NC_000019.10:g.(30 374652_30375061)_( 30375320_30375767) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	30,374,652	30,375,061	30,375,320	30,375,767
essv97829	Remapped	Perfect	NC_000019.10:g.(30 374652_30375061)_( 30375320_30375767) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	30,374,652	30,375,061	30,375,320	30,375,767
essv97997	Remapped	Perfect	NC_000019.10:g.(30 374652_30375061)_( 30375320_30375767) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	30,374,652	30,375,061	30,375,320	30,375,767
essv101347	Remapped	Perfect	NC_000019.9:g.(308 65559_30865968)_(3 0866227_30866674)d el	GRCh37.p13	First Pass	NC_000019.9	Chr19	30,865,559	30,865,968	30,866,227	30,866,674
essv94150	Remapped	Perfect	NC_000019.9:g.(308 65559_30865968)_(3 0866227_30866674)d el	GRCh37.p13	First Pass	NC_000019.9	Chr19	30,865,559	30,865,968	30,866,227	30,866,674
essv96247	Remapped	Perfect	NC_000019.9:g.(308 65559_30865968)_(3 0866227_30866674)d el	GRCh37.p13	First Pass	NC_000019.9	Chr19	30,865,559	30,865,968	30,866,227	30,866,674
essv97829	Remapped	Perfect	NC_000019.9:g.(308 65559_30865968)_(3 0866227_30866674)d up	GRCh37.p13	First Pass	NC_000019.9	Chr19	30,865,559	30,865,968	30,866,227	30,866,674
essv97997	Remapped	Perfect	NC_000019.9:g.(308 65559_30865968)_(3 0866227_30866674)d el	GRCh37.p13	First Pass	NC_000019.9	Chr19	30,865,559	30,865,968	30,866,227	30,866,674
essv101347	Submitted genomic		NC_000019.8:g.(355 57399_35557808)_(3 5558067_35558514)d el	NCBI35 (hg17)		NC_000019.8	Chr19	35,557,399	35,557,808	35,558,067	35,558,514
essv94150	Submitted genomic		NC_000019.8:g.(355 57399_35557808)_(3 5558067_35558514)d el	NCBI35 (hg17)		NC_000019.8	Chr19	35,557,399	35,557,808	35,558,067	35,558,514
essv96247	Submitted genomic		NC_000019.8:g.(355 57399_35557808)_(3 5558067_35558514)d el	NCBI35 (hg17)		NC_000019.8	Chr19	35,557,399	35,557,808	35,558,067	35,558,514
essv97829	Submitted genomic		NC_000019.8:g.(355 57399_35557808)_(3 5558067_35558514)d up	NCBI35 (hg17)		NC_000019.8	Chr19	35,557,399	35,557,808	35,558,067	35,558,514
essv97997	Submitted genomic		NC_000019.8:g.(355 57399_35557808)_(3 5558067_35558514)d el	NCBI35 (hg17)		NC_000019.8	Chr19	35,557,399	35,557,808	35,558,067	35,558,514

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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