A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16045673



Internal ID6047489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35253087..35263050hg38UCSC Ensembl
Innerchr19:35253150..35262988hg38UCSC Ensembl
Outerchr19:35253025..35263113hg38UCSC Ensembl
chr19:35743990..35753953hg19UCSC Ensembl
Innerchr19:35744053..35753891hg19UCSC Ensembl
Outerchr19:35743928..35754016hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg389964
hg199964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644232
Supporting Variants
SamplesNA19917
Known GenesLSR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16045673
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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