A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984233



Internal ID12977907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65018008..65778609hg38UCSC Ensembl
Innerchr7:64478386..65243596hg19UCSC Ensembl
Innerchr7:64115821..64881031hg18UCSC Ensembl
Innerchr7:63922536..64687746hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38760602
hg19765211
hg18765211
hg17765211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752166
Supporting Variants
SamplesBEC_814
Known GenesCCT6P1, CCT6P3, INTS4L2, LOC441242, SNORA22, ZNF92
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984233
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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