A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056460



Internal ID4268057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42781378..42945341hg38UCSC Ensembl
Innerchr19:42781878..42944841hg38UCSC Ensembl
Outerchr19:42780378..42946341hg38UCSC Ensembl
chr19:43285530..43449493hg19UCSC Ensembl
Innerchr19:43286030..43448993hg19UCSC Ensembl
Outerchr19:43284530..43450493hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38163964
hg19163964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644409
Supporting Variants
SamplesHG03833
Known GenesLOC100289650, PSG1, PSG10P, PSG6, PSG7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056460
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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