A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16051045



Internal ID6052861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37023082..37025753hg38UCSC Ensembl
Innerchr19:37023122..37025713hg38UCSC Ensembl
Outerchr19:37023042..37025793hg38UCSC Ensembl
chr19:37513984..37516655hg19UCSC Ensembl
Innerchr19:37514024..37516615hg19UCSC Ensembl
Outerchr19:37513944..37516695hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382672
hg192672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644276
Supporting Variants
SamplesHG02220
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16051045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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