A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10823041



Internal ID4028678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201344341..201359800hg38UCSC Ensembl
Innerchr2:201344491..201359650hg38UCSC Ensembl
Outerchr2:201344191..201359950hg38UCSC Ensembl
chr2:202209064..202224523hg19UCSC Ensembl
Innerchr2:202209214..202224373hg19UCSC Ensembl
Outerchr2:202208914..202224673hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3815460
hg1915460
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593978
Supporting Variants
SamplesHG03681
Known GenesALS2CR12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10823041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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