A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644220



Internal ID7030976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:34849092..34851663hg38UCSC Ensembl
Innerchr19:34849092..34851663hg38UCSC Ensembl
Outerchr19:34848819..34851972hg38UCSC Ensembl
chr19:35339996..35342567hg19UCSC Ensembl
Innerchr19:35339996..35342567hg19UCSC Ensembl
Outerchr19:35339723..35342876hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg382572
hg192572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16044867, essv16044852, essv16044862, essv16044859, essv16044861, essv16044857, essv16044849, essv16044848, essv16044863, essv16044865, essv16044856, essv16044853, essv16044858, essv16044866, essv16044851, essv16044860, essv16044864, essv16044850, essv16044855, essv16044854
SamplesHG00542, HG03121, HG03163, NA19378, HG02419, HG02981, HG03189, HG02479, NA19437, NA19462, HG01882, HG01049, HG02429, HG01396, NA19248, NA19223, HG02051, NA18488, NA19312, HG03072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644220
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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