A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667661



Internal ID9933766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239280946..239281170hg38UCSC Ensembl
Outerchr2:239280888..239281234hg38UCSC Ensembl
Innerchr2:240202642..240202866hg19UCSC Ensembl
Outerchr2:240202584..240202930hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5420692, essv6267003, essv6516943, essv6110180, essv6235737, essv5710496, essv6233863, essv5494957, essv5651479, essv5609693, essv5559018, essv6502317, essv6406234, essv5991579, essv6580107, essv6061571, essv6297622, essv6076752, essv6410877, essv6391800, essv6045912, essv5522807, essv6237728, essv5520639, essv5715895, essv5492010, essv5937037, essv6003371, essv5893377, essv6346163, essv6381488, essv5837998, essv6092522, essv5787516, essv5982171, essv6212959
SamplesNA19394, HG01441, NA19704, NA12843, HG00315, HG00327, NA18595, HG00346, HG00281, NA19917, NA12044, NA12889, NA18520, HG01048, HG00326, HG00323, HG00253, HG00282, NA18910, HG01047, NA18856, NA19453, NA12827, NA19395, HG00124, HG00336, NA18952, NA19380, NA20527, HG00256, HG00418, NA20341, NA19376, NA19328, HG00614, HG01082
Known GenesHDAC4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667661
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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