A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986800



Internal ID12633052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22289825hg38UCSC Ensembl
Innerchr15:20186408..22577776hg19UCSC Ensembl
Innerchr15:18446422..20079140hg18UCSC Ensembl
Innerchr15:18446422..20079140hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382308671
hg192391369
hg181632719
hg171632719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34632
Supporting Variants
SamplesNA18501
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986800
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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