A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990452



Internal ID1066180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11158315..11159459hg38UCSC Ensembl
Innerchr19:11158315..11159459hg38UCSC Ensembl
Outerchr19:11158024..11159713hg38UCSC Ensembl
chr19:11268991..11270135hg19UCSC Ensembl
Innerchr19:11268991..11270135hg19UCSC Ensembl
Outerchr19:11268700..11270389hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643664
Supporting Variants
SamplesHG00690
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990452
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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