A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671144



Internal ID9590563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25947631..25947863hg38UCSC Ensembl
Outerchr1:25947592..25947920hg38UCSC Ensembl
Innerchr1:26274122..26274354hg19UCSC Ensembl
Outerchr1:26274083..26274411hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6052305, essv6077443, essv5626186, essv6020522, essv6323824, essv5625271, essv6303005, essv6009263, essv5676336, essv5750407, essv5802954, essv6500308, essv5706561, essv5713581, essv5861714, essv6466004, essv5574179, essv5872269, essv6014836, essv6419842, essv5433387
SamplesNA20761, NA12842, NA12286, NA20514, NA20816, NA20802, NA20806, NA20795, NA20769, NA20513, NA20759, NA20819, NA20812, NA12748, NA20818, NA12829, NA11893, NA12546, NA19256, NA20790, NA11892
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671144
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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