A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989348



Internal ID12628199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46275506hg38UCSC Ensembl
Innerchr17:44165803..44352872hg19UCSC Ensembl
Innerchr17:41521621..41708649hg18UCSC Ensembl
Innerchr17:41521621..41708649hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38187070
hg19187070
hg18187029
hg17187029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751743
Supporting Variants
SamplesBEC_547
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989348
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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