A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989055



Internal ID12632693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45573674..45589540hg38UCSC Ensembl
Innerchr17:43651040..43666906hg19UCSC Ensembl
Innerchr17:41006823..41022689hg18UCSC Ensembl
Innerchr17:41006823..41022689hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3815867
hg1915867
hg1815867
hg1715867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35055
Supporting Variants
SamplesNA12802
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989055
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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