A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797724



Internal ID18825933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5995434..6040031hg38UCSC Ensembl
Innerchr7:6035065..6079662hg19UCSC Ensembl
Innerchr7:6001591..6046188hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3844598
hg1944598
hg1844598
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891031
Supporting Variants
Samples
Known GenesAIMP2, ANKRD61, EIF2AK1, PMS2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797724
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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