A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598649



Internal ID6985785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171534188..171536500hg38UCSC Ensembl
Innerchr3:171534338..171536350hg38UCSC Ensembl
Outerchr3:171534038..171536650hg38UCSC Ensembl
chr3:171251977..171254289hg19UCSC Ensembl
Innerchr3:171252127..171254139hg19UCSC Ensembl
Outerchr3:171251827..171254439hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg382313
hg192313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11225533, essv11225537, essv11225527, essv11225519, essv11225534, essv11225512, essv11225536, essv11225538, essv11225532, essv11225539, essv11225525, essv11225522, essv11225517, essv11225521, essv11225516, essv11225520, essv11225530, essv11225528, essv11225523, essv11225529, essv11225535, essv11225524, essv11225515, essv11225514, essv11225513, essv11225531, essv11225518, essv11225526
SamplesHG01303, NA19795, HG03235, HG01682, NA12283, HG02315, NA06984, HG00232, HG01673, NA20764, HG02477, HG00290, HG00268, HG02233, HG02582, HG02090, HG01789, HG01921, NA20534, HG00376, NA07051, HG02982, NA20792, HG00339, NA19248, HG01085, HG00112, NA20807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598649
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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