A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985238



Internal ID12636307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22472558hg38UCSC Ensembl
Innerchr15:20422587..22784095hg19UCSC Ensembl
Innerchr15:18682601..20335459hg18UCSC Ensembl
Innerchr15:18682601..20335459hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382255225
hg192361509
hg181652859
hg171652859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751357
Supporting Variants
SamplesSPC_129
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, 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)essv6985238
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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