A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983502



Internal ID12629716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4136751..4186588hg38UCSC Ensembl
Innerchr17:4040045..4089883hg19UCSC Ensembl
Innerchr17:3986794..4036632hg18UCSC Ensembl
Innerchr17:3986794..4036632hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3849838
hg1949839
hg1849839
hg1749839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751682
Supporting Variants
SamplesBEC_662
Known GenesANKFY1, CYB5D2, ZZEF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983502
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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