A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585175



Internal ID346754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5909185..5911185hg38UCSC Ensembl
Outerchr7:5897257..5925810hg38UCSC Ensembl
Innerchr7:5948816..5950816hg19UCSC Ensembl
Outerchr7:5936888..5965441hg19UCSC Ensembl
Innerchr7:5915342..5917342hg18UCSC Ensembl
Outerchr7:5903414..5931967hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3828554
hg1928554
hg1828554
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274969
Supporting Variants
Samples
Known GenesCCZ1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585175
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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