A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983558



Internal ID12976476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22042495hg38UCSC Ensembl
Innerchr15:20422587..22330446hg19UCSC Ensembl
Innerchr15:18682601..19831810hg18UCSC Ensembl
Innerchr15:18682601..19831810hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381825162
hg191907860
hg181149210
hg171149210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751372
Supporting Variants
SamplesBEC_668
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)essv6983558
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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