A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672248



Internal ID9938353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:16124168..16124745hg38UCSC Ensembl
Outerchr19:16124131..16124795hg38UCSC Ensembl
Innerchr19:16234978..16235555hg19UCSC Ensembl
Outerchr19:16234941..16235605hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38665
hg19665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6472927, essv6055123
SamplesHG01441, HG01173
Known GenesRAB8A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672248
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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