A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987729



Internal ID5989545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8147630..8148215hg38UCSC Ensembl
Innerchr19:8147630..8148215hg38UCSC Ensembl
Outerchr19:8147374..8148356hg38UCSC Ensembl
chr19:8212514..8213099hg19UCSC Ensembl
Innerchr19:8212514..8213099hg19UCSC Ensembl
Outerchr19:8212258..8213240hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643605
Supporting Variants
SamplesNA19676
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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