A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12064311



Internal ID2066127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132060762..132063038hg38UCSC Ensembl
Innerchr5:132060792..132063008hg38UCSC Ensembl
Outerchr5:132060732..132063068hg38UCSC Ensembl
chr5:131396455..131398731hg19UCSC Ensembl
Innerchr5:131396485..131398701hg19UCSC Ensembl
Outerchr5:131396425..131398761hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382277
hg192277
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606803
Supporting Variants
SamplesNA18533
Known GenesIL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12064311
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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