A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34843



Internal ID12644193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22288239hg38UCSC Ensembl
Innerchr15:20186408..22576190hg19UCSC Ensembl
Innerchr15:18446422..20077554hg18UCSC Ensembl
Innerchr15:18446422..20077554hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382307085
hg192389783
hg181631133
hg171631133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6978541, essv6978542
SamplesNA11992
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)esv34843
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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