A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676200



Internal ID9942305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133355205..133355802hg38UCSC Ensembl
chr7:133039959..133040556hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6007187, essv5679195, essv6147977
SamplesHG00108, HG00321, NA12778
Known GenesEXOC4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676200
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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