A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34845



Internal ID12644195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22037966hg38UCSC Ensembl
Innerchr15:20186408..22325917hg19UCSC Ensembl
Innerchr15:18446422..19827281hg18UCSC Ensembl
Innerchr15:18446422..19827281hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382056812
hg192139510
hg181380860
hg171380860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6979243, essv6986824
SamplesNA18516
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
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)esv34845
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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