A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751705



Internal ID12638571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080215..46733750hg38UCSC Ensembl
Innerchr17:44157581..44811116hg19UCSC Ensembl
Innerchr17:41513400..42166300hg18UCSC Ensembl
Innerchr17:41513400..42166300hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38653536
hg19653536
hg18652901
hg17652901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6981678, essv6981677, essv6985640
SamplesBEC_316
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751705
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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