A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677394



Internal ID9596813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113431975..113440686hg38UCSC Ensembl
Outerchr13:113431938..113440736hg38UCSC Ensembl
Innerchr13:114086290..114095001hg19UCSC Ensembl
Outerchr13:114086253..114095051hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388799
hg198799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5636799
SamplesHG00699
Known GenesADPRHL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677394
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer