A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647126



Internal ID7033867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44264320..44266641hg38UCSC Ensembl
Innerchr21:44264336..44266626hg38UCSC Ensembl
Outerchr21:44264305..44266657hg38UCSC Ensembl
chr21:45684203..45686524hg19UCSC Ensembl
Innerchr21:45684219..45686509hg19UCSC Ensembl
Outerchr21:45684188..45686540hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382322
hg192322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16330353, essv16330359, essv16330357, essv16330361, essv16330348, essv16330360, essv16330358, essv16330362, essv16330346, essv16330347, essv16330351, essv16330352, essv16330349, essv16330354, essv16330363, essv16330350, essv16330355, essv16330356
SamplesHG01986, NA19204, NA18486, NA19374, HG03385, HG03267, NA19437, NA18934, HG01879, HG03397, HG03388, HG02884, HG01257, HG03567, NA19321, HG03473, HG02805, HG03303
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647126
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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