A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590140



Internal ID6630427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27503024..27504759hg38UCSC Ensembl
Innerchr2:27503050..27504733hg38UCSC Ensembl
Outerchr2:27502998..27504785hg38UCSC Ensembl
chr2:27725891..27727626hg19UCSC Ensembl
Innerchr2:27725917..27727600hg19UCSC Ensembl
Outerchr2:27725865..27727652hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381736
hg191736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10436673, essv10436672
SamplesHG03857, HG01537
Known GenesGCKR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590140
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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