A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594835



Internal ID6982154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241563795..241564615hg38UCSC Ensembl
Innerchr2:241563795..241564615hg38UCSC Ensembl
Outerchr2:241563636..241564865hg38UCSC Ensembl
chr2:242503210..242504030hg19UCSC Ensembl
Innerchr2:242503210..242504030hg19UCSC Ensembl
Outerchr2:242503051..242504280hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10893471, essv10893470, essv10893472
SamplesHG01305, HG01069, HG00739
Known GenesBOK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594835
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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