A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590888



Internal ID6978216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56511420..56590892hg38UCSC Ensembl
Innerchr2:56511445..56590867hg38UCSC Ensembl
Outerchr2:56511395..56590917hg38UCSC Ensembl
chr2:56738555..56818027hg19UCSC Ensembl
Innerchr2:56738580..56818002hg19UCSC Ensembl
Outerchr2:56738530..56818052hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3879473
hg1979473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv697e214
Supporting Variantsessv10515058, essv10515057
SamplesNA18550, HG02399
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590888
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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