A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604153



Internal ID6991183
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11821251, essv11821252
SamplesHG01896, HG01479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604153
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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