A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981398



Internal ID12625367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46159359..46286690hg38UCSC Ensembl
Innerchr17:44236725..44364056hg19UCSC Ensembl
Innerchr17:41592502..41719833hg18UCSC Ensembl
Innerchr17:41592502..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38127332
hg19127332
hg18127332
hg17127332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751765
Supporting Variants
SamplesBEC_176
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981398
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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