A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658510



Internal ID9577929
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 Flag
Merged StatusM
Merged Variantsdgv1218e199
Supporting Variantsessv5733434, essv5945707, essv6188259
SamplesHG00542, HG00404, HG00346
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)esv2658510
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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