A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672015



Internal ID9938120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:145823448..145827694hg38UCSC Ensembl
Outerchr6:145823291..145827847hg38UCSC Ensembl
Innerchr6:146144584..146148830hg19UCSC Ensembl
Outerchr6:146144427..146148983hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg384557
hg194557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5937676, essv6264793
SamplesHG01073, HG01055
Known GenesLOC100507557
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672015
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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