A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978835



Internal ID12632502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46274563hg38UCSC Ensembl
Innerchr17:44165803..44351929hg19UCSC Ensembl
Innerchr17:41521621..41707706hg18UCSC Ensembl
Innerchr17:41521621..41707706hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38186127
hg19186127
hg18186086
hg17186086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751738
Supporting Variants
SamplesNA12717
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978835
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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