A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590623



Internal ID6977952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47128745..47144443hg38UCSC Ensembl
Innerchr2:47128745..47144443hg38UCSC Ensembl
Outerchr2:47128245..47144943hg38UCSC Ensembl
chr2:47355884..47371582hg19UCSC Ensembl
Innerchr2:47355884..47371582hg19UCSC Ensembl
Outerchr2:47355384..47372082hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3815699
hg1915699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10491047
SamplesHG01589
Known GenesC2orf61
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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