A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644343



Internal ID7031099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40183385..40187164hg38UCSC Ensembl
Innerchr19:40183396..40187153hg38UCSC Ensembl
Outerchr19:40183374..40187175hg38UCSC Ensembl
chr19:40689292..40693071hg19UCSC Ensembl
Innerchr19:40689303..40693060hg19UCSC Ensembl
Outerchr19:40689281..40693082hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383780
hg193780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16054808, essv16054807, essv16054805, essv16054806, essv16054804
SamplesHG02652, NA19917, HG04185, HG03755, HG04239
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644343
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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