A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989743



Internal ID12628202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46156410..46211213hg38UCSC Ensembl
Innerchr17:44233776..44288579hg19UCSC Ensembl
Innerchr17:41589553..41644356hg18UCSC Ensembl
Innerchr17:41589553..41644356hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3854804
hg1954804
hg1854804
hg1754804
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
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989743
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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