A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10720067



Internal ID5945650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:155250754..155281983hg38UCSC Ensembl
Innerchr2:155250754..155281983hg38UCSC Ensembl
Outerchr2:155250254..155282483hg38UCSC Ensembl
chr2:156107266..156138495hg19UCSC Ensembl
Innerchr2:156107266..156138495hg19UCSC Ensembl
Outerchr2:156106766..156138995hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3831230
hg1931230
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593015
Supporting Variants
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10720067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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