A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10515057



Internal ID2728039
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590888
Supporting Variants
SamplesHG02399
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10515057
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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