A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10628755



Internal ID5447647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112702882..112727074hg38UCSC Ensembl
Innerchr2:112703032..112726924hg38UCSC Ensembl
Outerchr2:112702732..112727224hg38UCSC Ensembl
chr2:113460459..113484651hg19UCSC Ensembl
Innerchr2:113460609..113484501hg19UCSC Ensembl
Outerchr2:113460309..113484801hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3824193
hg1924193
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592012
Supporting Variants
SamplesNA18964
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10628755
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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