A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979611



Internal ID12633769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62384616..62430316hg38UCSC Ensembl
Innerchr5:61680443..61726143hg19UCSC Ensembl
Innerchr5:61716200..61761900hg18UCSC Ensembl
Innerchr5:61716200..61761900hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3845701
hg1945701
hg1845701
hg1745701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35035
Supporting Variants
SamplesNA18579
Known GenesDIMT1, IPO11, KIF2A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979611
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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