A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987696



Internal ID12636962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089134..46131308hg38UCSC Ensembl
Innerchr17:44166500..44208674hg19UCSC Ensembl
Innerchr17:41522318..41564451hg18UCSC Ensembl
Innerchr17:41522318..41564451hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3842175
hg1942175
hg1842134
hg1742134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751750
Supporting Variants
SamplesSPC_188
Known GenesKANSL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987696
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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