A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11952969



Internal ID1412941
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605528
Supporting Variants
SamplesHG01281
Known GenesJMY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11952969
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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