A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586976



Internal ID6974403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101632325..101633002hg38UCSC Ensembl
Innerchr1:101632361..101632966hg38UCSC Ensembl
Outerchr1:101632289..101633038hg38UCSC Ensembl
chr1:102097881..102098558hg19UCSC Ensembl
Innerchr1:102097917..102098522hg19UCSC Ensembl
Outerchr1:102097845..102098594hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10034389, essv10034409, essv10034406, essv10034407, essv10034396, essv10034390, essv10034382, essv10034399, essv10034391, essv10034404, essv10034392, essv10034397, essv10034385, essv10034411, essv10034383, essv10034381, essv10034401, essv10034394, essv10034400, essv10034395, essv10034384, essv10034403, essv10034393, essv10034402, essv10034405, essv10034398, essv10034386, essv10034408, essv10034410, essv10034388, essv10034387
SamplesHG02610, HG02496, HG02583, HG02798, NA18877, HG02536, HG03436, HG03086, HG02621, NA20291, HG03209, HG03212, NA19159, HG02819, HG02479, HG02009, HG00332, HG03547, HG02953, HG02537, HG03301, HG02429, NA18879, HG03078, HG01988, HG03567, HG02255, HG02464, NA18501, HG02646, NA18876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586976
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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