A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644197



Internal ID7030953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33940694..33941739hg38UCSC Ensembl
Innerchr19:33940694..33941739hg38UCSC Ensembl
Outerchr19:33940381..33942090hg38UCSC Ensembl
chr19:34431599..34432644hg19UCSC Ensembl
Innerchr19:34431599..34432644hg19UCSC Ensembl
Outerchr19:34431286..34432995hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16043775, essv16043766, essv16043773, essv16043786, essv16043772, essv16043788, essv16043768, essv16043769, essv16043784, essv16043771, essv16043779, essv16043785, essv16043789, essv16043770, essv16043767, essv16043765, essv16043781, essv16043783, essv16043787, essv16043774, essv16043778, essv16043782, essv16043777, essv16043780, essv16043776
SamplesHG02481, HG00457, HG03521, HG03455, HG03499, NA19448, HG03189, HG02461, HG02479, HG02442, HG03120, HG03132, HG02497, HG02429, HG02309, HG02255, NA19467, NA20357, NA19117, NA18501, NA19351, NA19713, HG03410, HG03470, HG00553
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644197
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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