A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644395



Internal ID6684462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41806137..41816598hg38UCSC Ensembl
Innerchr19:41806184..41816552hg38UCSC Ensembl
Outerchr19:41806091..41816645hg38UCSC Ensembl
chr19:42310178..42320634hg19UCSC Ensembl
Innerchr19:42310225..42320588hg19UCSC Ensembl
Outerchr19:42310132..42320681hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3810462
hg1910457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056193, essv16056192
SamplesHG00879, HG02401
Known GenesCEACAM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644395
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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