A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522161



Internal ID6029189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62508714..62534329hg38UCSC Ensembl
Innerchr2:62508864..62534179hg38UCSC Ensembl
Outerchr2:62508564..62534479hg38UCSC Ensembl
chr2:62735849..62761464hg19UCSC Ensembl
Innerchr2:62735999..62761314hg19UCSC Ensembl
Outerchr2:62735699..62761614hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3825616
hg1925616
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591042
Supporting Variants
SamplesNA19437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522161
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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