A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984171



Internal ID12977800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36108119..36150004hg38UCSC Ensembl
Innerchr17:34435512..34477386hg19UCSC Ensembl
Innerchr17:31459625..31501499hg18UCSC Ensembl
Innerchr17:31459625..31501499hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3841886
hg1941875
hg1841875
hg1741875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34894
Supporting Variants
SamplesBEC_793
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984171
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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