A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644592



Internal ID6684658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48604616..48609671hg38UCSC Ensembl
Innerchr19:48604616..48609671hg38UCSC Ensembl
Outerchr19:48604116..48610171hg38UCSC Ensembl
chr19:49107873..49112928hg19UCSC Ensembl
Innerchr19:49107873..49112928hg19UCSC Ensembl
Outerchr19:49107373..49113428hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385056
hg195056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv666e214
Supporting Variantsessv16072879
SamplesHG01344
Known GenesFAM83E, SPACA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644592
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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