A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644390



Internal ID7031145
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056155, essv16056154
SamplesNA19443, HG03680
Known GenesCEACAM7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644390
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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