A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978073



Internal ID12978574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20293033..20937612hg38UCSC Ensembl
Innerchr15:20498286..21142941hg19UCSC Ensembl
Innerchr15:18758300..19407600hg18UCSC Ensembl
Innerchr15:18758300..19407600hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38644580
hg19644656
hg18649301
hg17649301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751445
Supporting Variants
SamplesNA11829
Known GenesCXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978073
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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