A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16079939



Internal ID1803079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51035426..51040499hg38UCSC Ensembl
Innerchr19:51035450..51040475hg38UCSC Ensembl
Outerchr19:51035402..51040523hg38UCSC Ensembl
chr19:51538682..51543756hg19UCSC Ensembl
Innerchr19:51538706..51543732hg19UCSC Ensembl
Outerchr19:51538658..51543780hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg385074
hg195075
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644665
Supporting Variants
SamplesHG01679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16079939
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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