A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984988



Internal ID12637165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46276519hg38UCSC Ensembl
Innerchr17:44165803..44353885hg19UCSC Ensembl
Innerchr17:41521621..41709662hg18UCSC Ensembl
Innerchr17:41521621..41709662hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38188083
hg19188083
hg18188042
hg17188042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34241
Supporting Variants
SamplesSPC_29
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984988
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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