A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643697



Internal ID7030456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12313426..12315475hg38UCSC Ensembl
Innerchr19:12313426..12315475hg38UCSC Ensembl
Outerchr19:12313137..12315726hg38UCSC Ensembl
chr19:12424240..12426289hg19UCSC Ensembl
Innerchr19:12424240..12426289hg19UCSC Ensembl
Outerchr19:12423951..12426540hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15991952, essv15991951, essv15991953
SamplesNA18951, NA19001, NA18963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643697
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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