A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12064283



Internal ID5592122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131900481..131906876hg38UCSC Ensembl
Innerchr5:131900501..131906856hg38UCSC Ensembl
Outerchr5:131900461..131906896hg38UCSC Ensembl
chr5:131236174..131242569hg19UCSC Ensembl
Innerchr5:131236194..131242549hg19UCSC Ensembl
Outerchr5:131236154..131242589hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386396
hg196396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606798
Supporting Variants
SamplesNA19028
Known GenesLOC728637
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12064283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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