A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6324947



Internal ID9302350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45941741..45943432hg38UCSC Ensembl
Outerchr19:45941584..45943585hg38UCSC Ensembl
Innerchr19:46444999..46446690hg19UCSC Ensembl
Outerchr19:46444842..46446843hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382002
hg192002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674835
Supporting Variants
SamplesHG00111
Known GenesNOVA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6324947
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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