A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107172



Internal ID6626151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57216295..57219103hg38UCSC Ensembl
Innerchr19:57216325..57219074hg38UCSC Ensembl
Outerchr19:57216266..57219133hg38UCSC Ensembl
chr19:57727663..57730471hg19UCSC Ensembl
Innerchr19:57727693..57730442hg19UCSC Ensembl
Outerchr19:57727634..57730501hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382809
hg192809
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644898
Supporting Variants
SamplesNA20790
Known GenesZNF264
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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