A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751488



Internal ID12985040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20381674..20994922hg38UCSC Ensembl
Innerchr15:20586927..21200251hg19UCSC Ensembl
Innerchr15:18846941..19464910hg18UCSC Ensembl
Innerchr15:18846941..19464910hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38613249
hg19613325
hg18617970
hg17617970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989710, essv6982952
SamplesBEC_529
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751488
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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