A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675417



Internal ID9594836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76517407..77007215hg38UCSC Ensembl
Outerchr7:76517373..77007250hg38UCSC Ensembl
Innerchr7:76146724..76636532hg19UCSC Ensembl
Outerchr7:76146690..76636567hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38489878
hg19489878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1218e199
Supporting Variantsessv5595703
SamplesHG00689
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675417
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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