A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668812



Internal ID9934917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46189828..46190962hg38UCSC Ensembl
chr21:47609742..47610876hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6397817, essv5683288, essv6096564, essv5739946, essv6130056, essv5612328, essv6388822, essv6325449, essv6383833, essv5890719, essv6145263, essv5815212, essv6497312, essv5707385, essv6248391, essv6107164, essv5411705, essv5951647, essv6124661, essv5673029, essv6076396, essv5996445, essv6437428, essv5585814, essv5709362, essv6227105, essv6591735, essv6354189, essv5945448, essv5397696, essv6586912, essv6090654, essv6131613, essv6270629, essv6487209, essv6126986, essv5795051, essv5992131, essv6212973, essv6424218, essv5827947, essv5645660, essv5438135, essv6525386, essv5538927, essv5716546, essv5468654, essv6268554, essv5489701, essv6511976, essv6250862, essv5712552, essv6054947, essv6493989, essv5517180, essv5593071, essv5821387, essv5832628, essv5633602, essv5831879, essv5422346, essv5980255, essv6536065, essv6062314
SamplesNA18502, HG01060, NA11829, NA19204, NA19332, NA19704, NA18507, NA19359, NA19355, NA18870, NA18510, NA19107, NA07346, NA19373, NA19171, NA19382, NA19313, NA19138, NA19384, NA18868, NA19137, NA19371, NA19238, NA11994, NA19235, NA19207, NA19722, NA18520, NA19239, NA20127, NA18867, NA19921, NA11831, HG01136, NA19347, NA19152, NA18499, NA18912, NA12892, NA18853, NA19452, NA19225, NA19318, NA19395, NA19625, NA18974, NA18953, NA19401, NA19440, NA19834, NA18517, NA19240, NA19380, NA19439, NA20341, NA19474, NA19093, NA19116, NA18488, NA19312, NA19463, NA18522, HG00553, NA19153
Known GenesLSS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668812
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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