A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991875



Internal ID6802532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12037075..12045395hg38UCSC Ensembl
Innerchr19:12037075..12045395hg38UCSC Ensembl
Outerchr19:12036575..12045895hg38UCSC Ensembl
chr19:12147890..12156210hg19UCSC Ensembl
Innerchr19:12147890..12156210hg19UCSC Ensembl
Outerchr19:12147390..12156710hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388321
hg198321
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643691
Supporting Variants
SamplesNA20890
Known GenesZNF878
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991875
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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