A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677675



Internal ID9943780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44727610..44731398hg38UCSC Ensembl
Outerchr19:44727573..44731448hg38UCSC Ensembl
Innerchr19:45230872..45234668hg19UCSC Ensembl
Outerchr19:45230835..45234718hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg383876
hg193884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv647e199
Supporting Variantsessv6390430
SamplesHG00418
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677675
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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