A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644687



Internal ID7031441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52259418..52268280hg38UCSC Ensembl
Innerchr19:52259568..52268130hg38UCSC Ensembl
Outerchr19:52259268..52268430hg38UCSC Ensembl
chr19:52762671..52771533hg19UCSC Ensembl
Innerchr19:52762821..52771383hg19UCSC Ensembl
Outerchr19:52762521..52771683hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg388863
hg198863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16081620, essv16081621, essv16081613, essv16081616, essv16081623, essv16081608, essv16081617, essv16081622, essv16081619, essv16081610, essv16081609, essv16081612, essv16081607, essv16081618, essv16081615, essv16081611, essv16081614
SamplesHG03052, HG03163, NA19332, HG03295, HG02860, HG03556, HG02588, NA19159, HG03583, HG03547, NA19236, HG03472, HG03078, NA19473, NA19143, HG03442, HG03258
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644687
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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