A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985180



Internal ID12636231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22046113hg38UCSC Ensembl
Innerchr15:20167089..22334064hg19UCSC Ensembl
Innerchr15:18427103..19835428hg18UCSC Ensembl
Innerchr15:18427103..19835428hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382084278
hg192166976
hg181408326
hg171408326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751355
Supporting Variants
SamplesSPC_118
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985180
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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