A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35035



Internal ID12644385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62362116..62496416hg38UCSC Ensembl
Innerchr5:61657943..61792243hg19UCSC Ensembl
Innerchr5:61693700..61828000hg18UCSC Ensembl
Innerchr5:61693700..61828000hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38134301
hg19134301
hg18134301
hg17134301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986905, essv6979612, essv6979611
SamplesNA18579
Known GenesDIMT1, IPO11, KIF2A
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)esv35035
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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