A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661914



Internal ID9581333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153988235..153989492hg38UCSC Ensembl
chr1:153960711..153961968hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6259404, essv6000195, essv5399773, essv6494783, essv5902602, essv5472184, essv6052135, essv5661479, essv5708117, essv6175601, essv6145445, essv6378187, essv5926332, essv6417674, essv6237369, essv5799486, essv5675523, essv5891452, essv5516765, essv5469898, essv5834130, essv5911108, essv5817964, essv5727456, essv6383662, essv6060691
SamplesNA19701, HG00231, NA12286, HG00257, HG00737, HG00179, HG00311, HG00277, HG00178, HG00268, NA12342, NA19717, HG00320, HG00275, HG01073, HG00146, NA19652, NA20801, HG01113, HG00319, HG00312, HG00342, HG00123, HG00310, HG00131, HG00377
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661914
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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