A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643450



Internal ID6683524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2992730..2993948hg38UCSC Ensembl
Innerchr19:2992730..2993948hg38UCSC Ensembl
Outerchr19:2992526..2994183hg38UCSC Ensembl
chr19:2992728..2993946hg19UCSC Ensembl
Innerchr19:2992728..2993946hg19UCSC Ensembl
Outerchr19:2992524..2994181hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15974445, essv15974444
SamplesHG01675, HG02154
Known GenesTLE6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643450
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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