A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677313



Internal ID9596732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48793404..48795679hg38UCSC Ensembl
Outerchr19:48793367..48795729hg38UCSC Ensembl
Innerchr19:49296661..49298936hg19UCSC Ensembl
Outerchr19:49296624..49298986hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382363
hg192363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6236620
SamplesHG00146
Known GenesBCAT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677313
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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