A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6188259



Internal ID9165662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76522013..77040008hg38UCSC Ensembl
Outerchr7:76521979..77040043hg38UCSC Ensembl
Innerchr7:76151330..76669325hg19UCSC Ensembl
Outerchr7:76151296..76669360hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38518065
hg19518065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658510
Supporting Variants
SamplesHG00404
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6188259
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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