A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10479587



Internal ID1270780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42252500..42255115hg38UCSC Ensembl
Innerchr2:42252650..42254965hg38UCSC Ensembl
Outerchr2:42252350..42255265hg38UCSC Ensembl
chr2:42479640..42482255hg19UCSC Ensembl
Innerchr2:42479790..42482105hg19UCSC Ensembl
Outerchr2:42479490..42482405hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382616
hg192616
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590501
Supporting Variants
SamplesHG01119
Known GenesEML4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10479587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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