A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16103397



Internal ID5389626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56807245..56810273hg38UCSC Ensembl
Innerchr19:56807245..56810273hg38UCSC Ensembl
Outerchr19:56806745..56810773hg38UCSC Ensembl
chr19:57318613..57321641hg19UCSC Ensembl
Innerchr19:57318613..57321641hg19UCSC Ensembl
Outerchr19:57318113..57322141hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg383029
hg193029
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644878
Supporting Variants
SamplesNA18939
Known GenesPEG3, ZIM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16103397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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