A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16008198



Internal ID6010014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:20467052..20678963hg38UCSC Ensembl
Innerchr19:20467073..20678943hg38UCSC Ensembl
Outerchr19:20467032..20678984hg38UCSC Ensembl
chr19:20649858..20861769hg19UCSC Ensembl
Innerchr19:20649879..20861749hg19UCSC Ensembl
Outerchr19:20649838..20861790hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38211912
hg19211912
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643886
Supporting Variants
SamplesHG03838
Known GenesZNF626, ZNF737
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16008198
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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