A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644473



Internal ID7031228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43673606..43679492hg38UCSC Ensembl
chr19:44177758..44183644hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16063181, essv16063182, essv16063167, essv16063175, essv16063170, essv16063179, essv16063177, essv16063172, essv16063184, essv16063180, essv16063173, essv16063169, essv16063171, essv16063176, essv16063168, essv16063166, essv16063174, essv16063178, essv16063183
SamplesNA21127, NA20899, NA21135, NA20756, HG04070, HG03911, NA21103, NA21109, NA20896, NA21105, NA20859, NA20856, NA21142, NA20851, HG03833, NA21117, NA21094, NA21125, NA21093
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644473
Frequency
Sample Size2504
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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