A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751463



Internal ID12638329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981133..22472558hg38UCSC Ensembl
Innerchr15:20186386..22791936hg19UCSC Ensembl
Innerchr15:18446400..20343300hg18UCSC Ensembl
Innerchr15:18446400..20343300hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382491426
hg192605551
hg181896901
hg171896901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93e55
Supporting Variantsessv6983463, essv6986443
SamplesBEC_658
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751463
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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