A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16079896



Internal ID6081712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50996542..51001686hg38UCSC Ensembl
Innerchr19:50996555..51001674hg38UCSC Ensembl
Outerchr19:50996530..51001699hg38UCSC Ensembl
chr19:51499798..51504942hg19UCSC Ensembl
Innerchr19:51499811..51504930hg19UCSC Ensembl
Outerchr19:51499786..51504955hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg385145
hg195145
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644662
Supporting Variants
SamplesHG02586
Known GenesKLK8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16079896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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