A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893025



Internal ID18837159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47374528..47412885hg38UCSC Ensembl
Outerchr17:47358209..47429316hg38UCSC Ensembl
Innerchr17:45451894..45490251hg19UCSC Ensembl
Outerchr17:45435575..45506682hg19UCSC Ensembl
Innerchr17:42806893..42845250hg18UCSC Ensembl
Outerchr17:42790574..42861681hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3871108
hg1971108
hg1871108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782061, essv25795999, essv25786217
Samples
Known GenesEFCAB13
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893025
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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