A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674995



Internal ID9941100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38926902..38928772hg38UCSC Ensembl
Outerchr17:38926865..38928822hg38UCSC Ensembl
Innerchr17:37083155..37085025hg19UCSC Ensembl
Outerchr17:37083118..37085075hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381958
hg191958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5626843
SamplesNA18985
Known GenesLINC00672
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674995
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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