A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34929



Internal ID12644279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42620746..42834322hg38UCSC Ensembl
Innerchr10:43116194..43329770hg19UCSC Ensembl
Innerchr10:42436200..42649776hg18UCSC Ensembl
Innerchr10:42436200..42649776hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38213577
hg19213577
hg18213577
hg17213577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979727, essv6979729, essv6988230, essv6979730, essv6979728
SamplesNA18620
Known GenesBMS1, ZNF33B
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)esv34929
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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