A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659889



Internal ID9579308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240779065..240779475hg38UCSC Ensembl
Outerchr2:240778999..240779556hg38UCSC Ensembl
Innerchr2:241718482..241718892hg19UCSC Ensembl
Outerchr2:241718416..241718973hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6335838, essv5900518, essv5703303, essv6594384, essv6151656, essv6338180, essv6513338, essv6542420, essv6047348, essv5863426, essv5515463, essv6178792, essv5581728, essv5545581, essv6430172, essv5572448, essv5949465, essv5486020, essv6422014, essv6270701, essv5722163, essv5587588, essv5412584, essv5595258, essv5934142, essv5968806, essv5616958, essv6089374
SamplesNA18861, NA19436, HG01440, HG01055, NA18523, NA18874, NA19455, NA19331, HG00428, NA18912, NA19390, NA20127, NA19429, NA19985, NA19316, NA19313, NA19172, NA19704, NA18487, NA19707, NA18909, NA19723, NA19818, NA19446, NA19225, NA18519, NA19439, HG01198
Known GenesKIF1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659889
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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