A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34873



Internal ID12990909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19986488..22300068hg38UCSC Ensembl
Innerchr15:20191741..22588019hg19UCSC Ensembl
Innerchr15:18451755..20089383hg18UCSC Ensembl
Innerchr15:18451755..20089383hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382313581
hg192396279
hg181637629
hg171637629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96e55
Supporting Variantsessv6984167, essv6989924, essv6984166
SamplesBEC_793
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)esv34873
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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