A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751689



Internal ID12638555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46062296..46286690hg38UCSC Ensembl
Innerchr17:44139662..44364056hg19UCSC Ensembl
Innerchr17:41495480..41719833hg18UCSC Ensembl
Innerchr17:41495480..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38224395
hg19224395
hg18224354
hg17224354
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv128e55
Supporting Variantsessv6988646, essv6983273, essv6986390, essv6983274
SamplesBEC_561
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)esv2751689
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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