A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984438



Internal ID12976996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217333..20994912hg38UCSC Ensembl
Innerchr15:20422586..21200241hg19UCSC Ensembl
Innerchr15:18682600..19464900hg18UCSC Ensembl
Innerchr15:18682600..19464900hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38777580
hg19777656
hg18782301
hg17782301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34908
Supporting Variants
SamplesBEC_706
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984438
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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