A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988580



Internal ID12628824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22472558hg38UCSC Ensembl
Innerchr15:20167086..22799936hg19UCSC Ensembl
Innerchr15:18427100..20351300hg18UCSC Ensembl
Innerchr15:18427100..20351300hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382510726
hg192632851
hg181924201
hg171924201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751360
Supporting Variants
SamplesBEC_589
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)essv6988580
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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