A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34794



Internal ID12644144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22472558hg38UCSC Ensembl
Innerchr15:20422587..22777875hg19UCSC Ensembl
Innerchr15:18682601..20329239hg18UCSC Ensembl
Innerchr15:18682601..20329239hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382255225
hg192355289
hg181646639
hg171646639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93e55
Supporting Variantsessv6978621, essv6978620, essv6986663
SamplesNA12043
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, 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)esv34794
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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