A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751768



Internal ID12638634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6384949..6407416hg38UCSC Ensembl
Innerchr17:6288269..6310736hg19UCSC Ensembl
Innerchr17:6228993..6251460hg18UCSC Ensembl
Innerchr17:6228993..6251460hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3822468
hg1922468
hg1822468
hg1722468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982009, essv6982008
SamplesBEC_512
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751768
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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