A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664262



Internal ID9930367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212909674..212914480hg38UCSC Ensembl
Outerchr1:212909303..212914850hg38UCSC Ensembl
Innerchr1:213083016..213087822hg19UCSC Ensembl
Outerchr1:213082645..213088192hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv97e199
Supporting Variantsessv5962036, essv5849857, essv6499389, essv6042486, essv6390516, essv6224211, essv5973455, essv6204208, essv5725085, essv5690987, essv5665697, essv6469946, essv5640000, essv5407310, essv6338488, essv6006820, essv6295914, essv6533448, essv5970435, essv5714757, essv6309740, essv6203534, essv5492460, essv5775925, essv5819965, essv5801103, essv6110871, essv5482090, essv5455435, essv5797314, essv6229221, essv6364817
SamplesNA20761, NA20531, NA20532, NA20517, NA20507, NA20806, NA20586, NA20769, NA20518, NA20819, NA20515, NA20818, NA20535, NA20505, NA20809, NA20810, NA20770, NA20525, NA20538, NA20526, NA20522, NA20815, NA20792, NA20544, NA20797, NA20582, NA20510, NA20807, NA20826, NA20528, NA20585, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664262
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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