A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751732



Internal ID12638598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46084918..46717868hg38UCSC Ensembl
Innerchr17:44162284..44795234hg19UCSC Ensembl
Innerchr17:41518102..42150418hg18UCSC Ensembl
Innerchr17:41518102..42150418hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38632951
hg19632951
hg18632317
hg17632317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6985121, essv6985120, essv6987163
SamplesSPC_10
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)esv2751732
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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