A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981367



Internal ID12626552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080231..46175998hg38UCSC Ensembl
Innerchr17:44157597..44253364hg19UCSC Ensembl
Innerchr17:41513416..41609141hg18UCSC Ensembl
Innerchr17:41513416..41609141hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3895768
hg1995768
hg1895726
hg1795726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34723
Supporting Variants
SamplesBEC_395
Known GenesKANSL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981367
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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