A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981317



Internal ID12973162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78656312..78752312hg38UCSC Ensembl
Innerchr18:76416312..76512312hg19UCSC Ensembl
Innerchr18:74517300..74613300hg18UCSC Ensembl
Innerchr18:74517300..74613300hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3896001
hg1996001
hg1896001
hg1796001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751780
Supporting Variants
SamplesBEC_385
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981317
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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