A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15980399



Internal ID5982215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4275790..4289414hg38UCSC Ensembl
Innerchr19:4276290..4288914hg38UCSC Ensembl
Outerchr19:4274790..4290414hg38UCSC Ensembl
chr19:4275787..4289411hg19UCSC Ensembl
Innerchr19:4276287..4288911hg19UCSC Ensembl
Outerchr19:4274787..4290411hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3813625
hg1913625
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643494
Supporting Variants
SamplesNA11920
Known GenesSHD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15980399
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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