A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990442



Internal ID4878134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10855515..10859560hg38UCSC Ensembl
Innerchr19:10856015..10859060hg38UCSC Ensembl
Outerchr19:10854515..10860560hg38UCSC Ensembl
chr19:10966191..10970236hg19UCSC Ensembl
Innerchr19:10966691..10969736hg19UCSC Ensembl
Outerchr19:10965191..10971236hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384046
hg194046
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643659
Supporting Variants
SamplesNA12347
Known GenesC19orf38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990442
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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