A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662976



Internal ID2896063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44045111..44047297hg38UCSC Ensembl
Outerchr17:44045074..44047347hg38UCSC Ensembl
Innerchr17:42122479..42124665hg19UCSC Ensembl
Outerchr17:42122442..42124715hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382274
hg192274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5848431
SamplesNA18523
Known GenesLSM12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662976
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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