A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665250



Internal ID9584669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:135149105..135156337hg38UCSC Ensembl
Outerchr7:135149068..135156387hg38UCSC Ensembl
Innerchr7:134833857..134841089hg19UCSC Ensembl
Outerchr7:134833820..134841139hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg387320
hg197320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5396022
SamplesNA18633
Known GenesTMEM140
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665250
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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