A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16072685



Internal ID5540553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48249159..48255148hg38UCSC Ensembl
Innerchr19:48249159..48255148hg38UCSC Ensembl
Outerchr19:48249021..48255342hg38UCSC Ensembl
chr19:48752416..48758405hg19UCSC Ensembl
Innerchr19:48752416..48758405hg19UCSC Ensembl
Outerchr19:48752278..48758599hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385990
hg195990
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644579
Supporting Variants
SamplesNA19001
Known GenesCARD8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16072685
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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