A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674288



Internal ID9940393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38545826..38606832hg38UCSC Ensembl
chr13:39119963..39180969hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3861007
hg1961007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6152361, essv5937036
SamplesHG00187, HG00311
Known GenesLINC00366
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674288
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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