A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978479



Internal ID12982043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62642972..63245772hg38UCSC Ensembl
Innerchr7:62103350..62706150hg19UCSC Ensembl
Innerchr7:61740785..62343585hg18UCSC Ensembl
Innerchr7:61547500..62150300hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38602801
hg19602801
hg18602801
hg17602801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34858
Supporting Variants
SamplesNA19116
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978479
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