A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676665



Internal ID9942770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36923224..36926595hg38UCSC Ensembl
chr13:37497361..37500732hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383372
hg193372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5764576, essv6484777, essv5424869, essv6302462
SamplesHG00361, HG00369, HG00324, HG00342
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676665
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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