A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606721



Internal ID6993656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128199336..128202616hg38UCSC Ensembl
Innerchr5:128199344..128202608hg38UCSC Ensembl
Outerchr5:128199328..128202624hg38UCSC Ensembl
chr5:127535028..127538308hg19UCSC Ensembl
Innerchr5:127535036..127538300hg19UCSC Ensembl
Outerchr5:127535020..127538316hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg383281
hg193281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12060960, essv12060959
SamplesHG00306, HG02047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606721
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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