A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34448



Internal ID12643801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22037966hg38UCSC Ensembl
Innerchr15:20167089..22325917hg19UCSC Ensembl
Innerchr15:18427103..19827281hg18UCSC Ensembl
Innerchr15:18427103..19827281hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382076131
hg192158829
hg181400179
hg171400179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6990187, essv6978030, essv6978029
SamplesNA10859
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)esv34448
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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