A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660132



Internal ID9926237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:104799641..104801291hg38UCSC Ensembl
Outerchr7:104799604..104801341hg38UCSC Ensembl
Innerchr7:104440088..104441738hg19UCSC Ensembl
Outerchr7:104440051..104441788hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5639246
SamplesHG01198
Known GenesLHFPL3, LHFPL3-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660132
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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