A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980655



Internal ID12625096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46085231..46278268hg38UCSC Ensembl
Innerchr17:44162597..44355634hg19UCSC Ensembl
Innerchr17:41518415..41711411hg18UCSC Ensembl
Innerchr17:41518415..41711411hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38193038
hg19193038
hg18192997
hg17192997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751735
Supporting Variants
SamplesBEC_101
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980655
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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