A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983272



Internal ID12975095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20317687..22300068hg38UCSC Ensembl
Innerchr15:20522940..22588019hg19UCSC Ensembl
Innerchr15:18782954..20089383hg18UCSC Ensembl
Innerchr15:18782954..20089383hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381982382
hg192065080
hg181306430
hg171306430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34467
Supporting Variants
SamplesBEC_561
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)essv6983272
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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