A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751697



Internal ID12638563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46066848..46719411hg38UCSC Ensembl
Innerchr17:44144214..44796777hg19UCSC Ensembl
Innerchr17:41500036..42151961hg18UCSC Ensembl
Innerchr17:41500036..42151961hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38652564
hg19652564
hg18651926
hg17651926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6984979, essv6984977, essv6987132, essv6984978
SamplesSPC_25
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)esv2751697
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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