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dbVar

Database of genomic structural variation

esv4010552

Organism: Homo sapiens

Study:estd233 (Luo et al. 2017b)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:5,001

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: 282 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):54,051,746-54,056,746

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv4010552	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	54,051,746	54,056,746
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_9	Second Pass	NT_187693.1	Chr19\|NT_1 87693.1	26,113	31,113
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_8	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	26,113	31,113
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NW_003571057.2	Chr19\|NW_0 03571057.2	26,113	31,113
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_5	Second Pass	NW_003571058.2	Chr19\|NW_0 03571058.2	26,113	31,113
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_6	Second Pass	NW_003571059.2	Chr19\|NW_0 03571059.2	26,113	31,113
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	26,113	31,113
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NW_003571056.2	Chr19\|NW_0 03571056.2	26,113	31,113
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	26,113	31,113
esv4010552	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	26,113	31,113
esv4010552	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	54,555,000	54,560,000

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv26066559	copy number loss	hepG2	Sequencing	Read depth and paired-end mapping	0	1,026

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv26066559	Remapped	Perfect	NT_187693.1:g.2611 3_31113del5000	GRCh38.p12	Second Pass	NT_187693.1	Chr19\|NT_1 87693.1	26,113	31,113
essv26066559	Remapped	Perfect	NW_003571061.2:g.2 6113_31113del5000	GRCh38.p12	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	26,113	31,113
essv26066559	Remapped	Perfect	NW_003571057.2:g.2 6113_31113del5000	GRCh38.p12	Second Pass	NW_003571057.2	Chr19\|NW_0 03571057.2	26,113	31,113
essv26066559	Remapped	Perfect	NW_003571058.2:g.2 6113_31113del5000	GRCh38.p12	Second Pass	NW_003571058.2	Chr19\|NW_0 03571058.2	26,113	31,113
essv26066559	Remapped	Perfect	NW_003571059.2:g.2 6113_31113del5000	GRCh38.p12	Second Pass	NW_003571059.2	Chr19\|NW_0 03571059.2	26,113	31,113
essv26066559	Remapped	Perfect	NW_003571060.1:g.2 6113_31113del5000	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	26,113	31,113
essv26066559	Remapped	Perfect	NW_003571056.2:g.2 6113_31113del5000	GRCh38.p12	Second Pass	NW_003571056.2	Chr19\|NW_0 03571056.2	26,113	31,113
essv26066559	Remapped	Perfect	NW_003571055.2:g.2 6113_31113del5000	GRCh38.p12	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	26,113	31,113
essv26066559	Remapped	Perfect	NW_003571054.1:g.2 6113_31113del5000	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	26,113	31,113
essv26066559	Remapped	Perfect	NC_000019.10:g.540 51746_54056746del5 000	GRCh38.p12	First Pass	NC_000019.10	Chr19	54,051,746	54,056,746
essv26066559	Submitted genomic		NC_000019.9:g.5455 5000_54560000del50 00	GRCh37 (hg19)		NC_000019.9	Chr19	54,555,000	54,560,000

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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