A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644651



Internal ID7031405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50752126..50762910hg38UCSC Ensembl
chr19:51255383..51266167hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810785
hg1910785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16078606, essv16078610, essv16078614, essv16078618, essv16078612, essv16078605, essv16078616, essv16078617, essv16078607, essv16078613, essv16078608, essv16078615, essv16078619, essv16078611, essv16078609
SamplesNA18924, NA20877, NA11995, HG01110, NA19130, HG00158, HG04047, HG00653, HG00273, HG00119, HG03779, NA19117, HG03977, NA20509, HG03741
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644651
Frequency
Sample Size2504
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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