A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5915498



Internal ID9198425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:142943679..142947185hg38UCSC Ensembl
Outerchr6:142943308..142947555hg38UCSC Ensembl
Innerchr6:143264816..143268322hg19UCSC Ensembl
Outerchr6:143264445..143268692hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667220
Supporting Variants
SamplesHG01498
Known GenesHIVEP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5915498
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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