A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15982252



Internal ID5984068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4865553..4870303hg38UCSC Ensembl
Innerchr19:4865553..4870303hg38UCSC Ensembl
Outerchr19:4865053..4870803hg38UCSC Ensembl
chr19:4865565..4870315hg19UCSC Ensembl
Innerchr19:4865565..4870315hg19UCSC Ensembl
Outerchr19:4865065..4870815hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384751
hg194751
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643515
Supporting Variants
SamplesNA20588
Known GenesPLIN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15982252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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