A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978072



Internal ID12978590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20288133..20866681hg38UCSC Ensembl
Innerchr15:20493386..21072010hg19UCSC Ensembl
Innerchr15:18753400..19336700hg18UCSC Ensembl
Innerchr15:18753400..19336700hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38578549
hg19578625
hg18583301
hg17583301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751445
Supporting Variants
SamplesNA11829
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978072
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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