A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751368



Internal ID12984920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20994922hg38UCSC Ensembl
Innerchr15:20167089..21200251hg19UCSC Ensembl
Innerchr15:18427103..19464910hg18UCSC Ensembl
Innerchr15:18427103..19464910hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381033087
hg191033163
hg181037808
hg171037808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv95e55
Supporting Variantsessv6989952, essv6984401
SamplesBEC_703
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)esv2751368
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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