A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34722



Internal ID12644072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80170206..80191712hg38UCSC Ensembl
Innerchr17:78144005..78165511hg19UCSC Ensembl
Innerchr17:75758600..75780106hg18UCSC Ensembl
Innerchr17:75758600..75780106hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3821507
hg1921507
hg1821507
hg1721507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986945, essv6990408, essv6979791
SamplesNA18632
Known GenesCARD14
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34722
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer