A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987352



Internal ID12981640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22051369hg38UCSC Ensembl
Innerchr15:20422587..22339320hg19UCSC Ensembl
Innerchr15:18682601..19840684hg18UCSC Ensembl
Innerchr15:18682601..19840684hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381834036
hg191916734
hg181158084
hg171158084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34496
Supporting Variants
SamplesNA18990
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987352
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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