A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997433



Internal ID4299338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14550217..14554086hg38UCSC Ensembl
Innerchr19:14550231..14554073hg38UCSC Ensembl
Outerchr19:14550204..14554100hg38UCSC Ensembl
chr19:14661029..14664898hg19UCSC Ensembl
Innerchr19:14661043..14664885hg19UCSC Ensembl
Outerchr19:14661016..14664912hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383870
hg193870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643746
Supporting Variants
SamplesHG03857
Known GenesTECR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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