A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990252



Internal ID5992068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9819424..9820691hg38UCSC Ensembl
Innerchr19:9819424..9820691hg38UCSC Ensembl
Outerchr19:9819121..9820903hg38UCSC Ensembl
chr19:9930100..9931367hg19UCSC Ensembl
Innerchr19:9930100..9931367hg19UCSC Ensembl
Outerchr19:9929797..9931579hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643643
Supporting Variants
SamplesHG02131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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