A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591291



Internal ID6978619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74864938..74867294hg38UCSC Ensembl
Innerchr2:74864938..74867294hg38UCSC Ensembl
Outerchr2:74864522..74867533hg38UCSC Ensembl
chr2:75092065..75094421hg19UCSC Ensembl
Innerchr2:75092065..75094421hg19UCSC Ensembl
Outerchr2:75091649..75094660hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg382357
hg192357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10542578, essv10542583, essv10542584, essv10542582, essv10542586, essv10542580, essv10542585, essv10542587, essv10542579, essv10542581
SamplesHG02895, HG03246, HG03556, NA19437, HG02322, HG03354, NA19144, HG02814, NA18873, HG03265
Known GenesHK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591291
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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