A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986749



Internal ID12632691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105150628..105503283hg38UCSC Ensembl
Innerchr7:104791075..105143730hg19UCSC Ensembl
Innerchr7:104578311..104930966hg18UCSC Ensembl
Innerchr7:104385026..104737681hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38352656
hg19352656
hg18352656
hg17352656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34580
Supporting Variants
SamplesNA12802
Known GenesPUS7, SRPK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986749
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