A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978031



Internal ID12978516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45573674..45616172hg38UCSC Ensembl
Innerchr17:43651040..43693538hg19UCSC Ensembl
Innerchr17:41006823..41049321hg18UCSC Ensembl
Innerchr17:41006823..41049321hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3842499
hg1942499
hg1842499
hg1742499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751684
Supporting Variants
SamplesNA10859
Known GenesLOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978031
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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