A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990408



Internal ID12634073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80170232..80190222hg38UCSC Ensembl
Innerchr17:78144031..78164021hg19UCSC Ensembl
Innerchr17:75758626..75778616hg18UCSC Ensembl
Innerchr17:75758626..75778616hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3819991
hg1919991
hg1819991
hg1719991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34722
Supporting Variants
SamplesNA18632
Known GenesCARD14
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990408
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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