A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16003964



Internal ID6005780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18587326..18591044hg38UCSC Ensembl
Innerchr19:18587336..18591035hg38UCSC Ensembl
Outerchr19:18587317..18591054hg38UCSC Ensembl
chr19:18698136..18701854hg19UCSC Ensembl
Innerchr19:18698146..18701845hg19UCSC Ensembl
Outerchr19:18698127..18701864hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383719
hg193719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643841
Supporting Variants
SamplesHG02272
Known GenesC19orf60
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16003964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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