A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664889



Internal ID9930994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17110540..17112523hg38UCSC Ensembl
Outerchr6:17110503..17112573hg38UCSC Ensembl
Innerchr6:17110771..17112754hg19UCSC Ensembl
Outerchr6:17110734..17112804hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5712806
SamplesNA12340
Known GenesSTMND1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664889
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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