A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986784



Internal ID12979567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40343560..40440124hg38UCSC Ensembl
Innerchr7:40383159..40479723hg19UCSC Ensembl
Innerchr7:40349684..40446248hg18UCSC Ensembl
Innerchr7:40156399..40252963hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3896565
hg1996565
hg1896565
hg1796565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34484
Supporting Variants
SamplesNA12872
Known GenesC7orf10
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986784
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