A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657378



Internal ID9923483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135456263..135459293hg38UCSC Ensembl
chr7:135141011..135144041hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg383031
hg193031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5479453, essv6433912, essv5897266, essv6130175
SamplesHG01359, NA20808, NA20538, NA06989
Known GenesCNOT4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657378
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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