A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605644



Internal ID6992582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84157693..84164427hg38UCSC Ensembl
Innerchr5:84157728..84164392hg38UCSC Ensembl
Outerchr5:84157658..84164462hg38UCSC Ensembl
chr5:83453511..83460245hg19UCSC Ensembl
Innerchr5:83453546..83460210hg19UCSC Ensembl
Outerchr5:83453476..83460280hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386735
hg196735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11959119, essv11959120
SamplesNA20339, NA19019
Known GenesEDIL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605644
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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