A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12911603



Internal ID2913419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102441080..102443935hg38UCSC Ensembl
Innerchr7:102441130..102443885hg38UCSC Ensembl
Outerchr7:102441030..102443985hg38UCSC Ensembl
chr7:102081527..102084382hg19UCSC Ensembl
Innerchr7:102081577..102084332hg19UCSC Ensembl
Outerchr7:102081477..102084432hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382856
hg192856
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614352
Supporting Variants
SamplesNA19901
Known GenesORAI2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12911603
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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