A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751297



Internal ID12984849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..20994922hg38UCSC Ensembl
Innerchr15:20167086..21200251hg19UCSC Ensembl
Innerchr15:18427100..19464910hg18UCSC Ensembl
Innerchr15:18427100..19464910hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381033090
hg191033166
hg181037811
hg171037811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv91e55
Supporting Variantsessv6984844, essv6984843, essv6984842
SamplesSPC_184
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, 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)esv2751297
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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