A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981956



Internal ID12627522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135838..46278268hg38UCSC Ensembl
Innerchr17:44213204..44355634hg19UCSC Ensembl
Innerchr17:41568981..41711411hg18UCSC Ensembl
Innerchr17:41568981..41711411hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38142431
hg19142431
hg18142431
hg17142431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751711
Supporting Variants
SamplesBEC_508
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981956
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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