A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10665120



Internal ID5958105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128493614..128496273hg38UCSC Ensembl
Innerchr2:128493614..128496273hg38UCSC Ensembl
Outerchr2:128493456..128496428hg38UCSC Ensembl
chr2:129251188..129253847hg19UCSC Ensembl
Innerchr2:129251188..129253847hg19UCSC Ensembl
Outerchr2:129251030..129254002hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382660
hg192660
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592390
Supporting Variants
SamplesNA19376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10665120
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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