A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982621



Internal ID12975274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36108598..36137995hg38UCSC Ensembl
Innerchr17:34435991..34465375hg19UCSC Ensembl
Innerchr17:31460104..31489488hg18UCSC Ensembl
Innerchr17:31460104..31489488hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3829398
hg1929385
hg1829385
hg1729385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34529
Supporting Variants
SamplesBEC_571
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982621
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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