A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891147



Internal ID18838857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76659664..76918686hg38UCSC Ensembl
Outerchr7:76488434..77008124hg38UCSC Ensembl
Innerchr7:76288981..76548003hg19UCSC Ensembl
Outerchr7:76117751..76637441hg19UCSC Ensembl
Innerchr7:76126917..76385939hg18UCSC Ensembl
Outerchr7:75955687..76475377hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38519691
hg19519691
hg18519691
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792887, essv25788263, essv25790798, essv25790598, essv25787064, essv25788308, essv25790130, essv25791972, essv25788102, essv25792638, essv25791119, essv25780085, essv25787970
Samples
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891147
Frequency
Sample Size3017
Observed Gain11
Observed Loss2
Observed Complex0
Frequencyn/a


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