A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980324



Internal ID12631510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22270557hg38UCSC Ensembl
Innerchr15:20422587..22558508hg19UCSC Ensembl
Innerchr15:18682601..20059872hg18UCSC Ensembl
Innerchr15:18682601..20059872hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382053224
hg192135922
hg181377272
hg171377272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751441
Supporting Variants
SamplesNA07048
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980324
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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