A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10834508



Internal ID5123256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209168216..209179188hg38UCSC Ensembl
Innerchr2:209168216..209179188hg38UCSC Ensembl
Outerchr2:209167716..209179688hg38UCSC Ensembl
chr2:210032940..210043912hg19UCSC Ensembl
Innerchr2:210032940..210043912hg19UCSC Ensembl
Outerchr2:210032440..210044412hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3810973
hg1910973
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594140
Supporting Variants
SamplesNA18564
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10834508
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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