A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568559



Internal ID5715017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84892289..84895390hg38UCSC Ensembl
Innerchr2:84892303..84895377hg38UCSC Ensembl
Outerchr2:84892276..84895404hg38UCSC Ensembl
chr2:85119413..85122514hg19UCSC Ensembl
Innerchr2:85119427..85122501hg19UCSC Ensembl
Outerchr2:85119400..85122528hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591523
Supporting Variants
SamplesNA19095
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568559
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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