A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606640



Internal ID6993575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124832165..124841328hg38UCSC Ensembl
Innerchr5:124832193..124841301hg38UCSC Ensembl
Outerchr5:124832138..124841356hg38UCSC Ensembl
chr5:124167858..124177021hg19UCSC Ensembl
Innerchr5:124167886..124176994hg19UCSC Ensembl
Outerchr5:124167831..124177049hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg389164
hg199164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12047901, essv12047902
SamplesNA18969, NA18941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606640
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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