A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751749



Internal ID12638615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46717824hg38UCSC Ensembl
Innerchr17:44165803..44795190hg19UCSC Ensembl
Innerchr17:41521621..42150374hg18UCSC Ensembl
Innerchr17:41521621..42150374hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38629388
hg19629388
hg18628754
hg17628754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6985047, essv6988884, essv6985046, essv6985045
SamplesBEC_826
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)esv2751749
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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