A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522147



Internal ID5747345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62384619..62387618hg38UCSC Ensembl
Innerchr2:62384619..62387618hg38UCSC Ensembl
Outerchr2:62384119..62388118hg38UCSC Ensembl
chr2:62611754..62614753hg19UCSC Ensembl
Innerchr2:62611754..62614753hg19UCSC Ensembl
Outerchr2:62611254..62615253hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591039
Supporting Variants
SamplesNA19118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522147
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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