A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751702



Internal ID12638568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080215..46286690hg38UCSC Ensembl
Innerchr17:44157581..44364056hg19UCSC Ensembl
Innerchr17:41513400..41719833hg18UCSC Ensembl
Innerchr17:41513400..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38206476
hg19206476
hg18206434
hg17206434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv128e55
Supporting Variantsessv6978599, essv6986654, essv6978598, essv6978597, essv6978600
SamplesNA12005
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751702
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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