A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982600



Internal ID12975242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22144821hg38UCSC Ensembl
Innerchr15:20167089..22432772hg19UCSC Ensembl
Innerchr15:18427103..19934136hg18UCSC Ensembl
Innerchr15:18427103..19934136hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382182986
hg192265684
hg181507034
hg171507034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751385
Supporting Variants
SamplesBEC_57
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982600
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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