A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673053



Internal ID9592472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76498849..76997635hg38UCSC Ensembl
Outerchr7:76498815..76997670hg38UCSC Ensembl
Innerchr7:76128166..76626952hg19UCSC Ensembl
Outerchr7:76128132..76626987hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38498856
hg19498856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1218e199
Supporting Variantsessv6452895
SamplesHG00690
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673053
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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