A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056154



Internal ID4026747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41681940..41683051hg38UCSC Ensembl
Innerchr19:41681987..41683004hg38UCSC Ensembl
Outerchr19:41681893..41683098hg38UCSC Ensembl
chr19:42185871..42186982hg19UCSC Ensembl
Innerchr19:42185918..42186935hg19UCSC Ensembl
Outerchr19:42185824..42187029hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644390
Supporting Variants
SamplesHG03680
Known GenesCEACAM7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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