A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605528



Internal ID6972458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79263606..79265994hg38UCSC Ensembl
Innerchr5:79263627..79265974hg38UCSC Ensembl
Outerchr5:79263586..79266015hg38UCSC Ensembl
chr5:78559429..78561817hg19UCSC Ensembl
Innerchr5:78559450..78561797hg19UCSC Ensembl
Outerchr5:78559409..78561838hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382389
hg192389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11952969
SamplesHG01281
Known GenesJMY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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