A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657521



Internal ID9576940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56823631..56827364hg38UCSC Ensembl
Outerchr17:56823474..56827517hg38UCSC Ensembl
Innerchr17:54900992..54904725hg19UCSC Ensembl
Outerchr17:54900835..54904878hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384044
hg194044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5763272
SamplesHG00275
Known GenesC17orf67
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657521
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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