A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11821252



Internal ID2094250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17096843..17102844hg38UCSC Ensembl
Innerchr5:17096993..17102694hg38UCSC Ensembl
Outerchr5:17096693..17102994hg38UCSC Ensembl
chr5:17096952..17102953hg19UCSC Ensembl
Innerchr5:17097102..17102803hg19UCSC Ensembl
Outerchr5:17096802..17103103hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604153
Supporting Variants
SamplesHG01896
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11821252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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