A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15984166



Internal ID1638129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5751960..5753691hg38UCSC Ensembl
Innerchr19:5752010..5753641hg38UCSC Ensembl
Outerchr19:5751910..5753741hg38UCSC Ensembl
chr19:5751971..5753702hg19UCSC Ensembl
Innerchr19:5752021..5753652hg19UCSC Ensembl
Outerchr19:5751921..5753752hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381732
hg191732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643538
Supporting Variants
SamplesHG01510
Known GenesCATSPERD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15984166
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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