A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671765



Internal ID9937870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31369518..31371819hg38UCSC Ensembl
chr13:31943655..31945956hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv342e199
Supporting Variantsessv5475248
SamplesHG00537
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671765
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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