A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10538274



Internal ID540090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71456534..71457500hg38UCSC Ensembl
Innerchr2:71456557..71457477hg38UCSC Ensembl
Outerchr2:71456511..71457523hg38UCSC Ensembl
chr2:71683664..71684630hg19UCSC Ensembl
Innerchr2:71683687..71684607hg19UCSC Ensembl
Outerchr2:71683641..71684653hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38967
hg19967
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591229
Supporting Variants
SamplesNA21109
Known GenesDYSF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10538274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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