A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893053



Internal ID19183873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:83032911..83088536hg38UCSC Ensembl
Outerchr17:83013582..83102004hg38UCSC Ensembl
Innerchr17:80990787..81046412hg19UCSC Ensembl
Outerchr17:80971458..81060000hg19UCSC Ensembl
Innerchr17:78584076..78639701hg18UCSC Ensembl
Outerchr17:78564747..78653169hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3888423
hg1988543
hg1888423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789472, essv25787821
Samples
Known GenesB3GNTL1, METRNL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893053
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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