A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10434982



Internal ID436798
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590133
Supporting Variants
SamplesHG00187
Known GenesCGREF1, KHK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10434982
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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