A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780085



Internal ID18834604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76580142..77008124hg38UCSC Ensembl
Innerchr7:76209459..76637441hg19UCSC Ensembl
Innerchr7:76047395..76475377hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38427983
hg19427983
hg18427983
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891147
Supporting Variants
Samples
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=44
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780085
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