A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35064



Internal ID12991100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22289825hg38UCSC Ensembl
Innerchr15:20186408..22577776hg19UCSC Ensembl
Innerchr15:18446422..20079140hg18UCSC Ensembl
Innerchr15:18446422..20079140hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382308671
hg192391369
hg181632719
hg171632719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96e55
Supporting Variantsessv6982326, essv6982327
SamplesBEC_418
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35064
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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