A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590133



Internal ID6630420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27091793..27101253hg38UCSC Ensembl
Innerchr2:27091812..27101234hg38UCSC Ensembl
Outerchr2:27091774..27101272hg38UCSC Ensembl
chr2:27314661..27324121hg19UCSC Ensembl
Innerchr2:27314680..27324102hg19UCSC Ensembl
Outerchr2:27314642..27324140hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg389461
hg199461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10434982, essv10434983
SamplesHG00187, HG00358
Known GenesCGREF1, KHK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590133
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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