A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997186



Internal ID5999002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13880971..13889243hg38UCSC Ensembl
Innerchr19:13880988..13889226hg38UCSC Ensembl
Outerchr19:13880954..13889260hg38UCSC Ensembl
chr19:13991784..14000056hg19UCSC Ensembl
Innerchr19:13991801..14000039hg19UCSC Ensembl
Outerchr19:13991767..14000073hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg388273
hg198273
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643730
Supporting Variants
SamplesHG03796
Known GenesC19orf57
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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