A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16039968



Internal ID2122500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32089552..32094142hg38UCSC Ensembl
Innerchr19:32089573..32094121hg38UCSC Ensembl
Outerchr19:32089531..32094163hg38UCSC Ensembl
chr19:32580458..32585048hg19UCSC Ensembl
Innerchr19:32580479..32585027hg19UCSC Ensembl
Outerchr19:32580437..32585069hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg384591
hg194591
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644163
Supporting Variants
SamplesHG01927
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16039968
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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