A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643790



Internal ID7030548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16141633..16146766hg38UCSC Ensembl
chr19:16252443..16257576hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg385134
hg195134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16002722, essv16002715, essv16002726, essv16002727, essv16002721, essv16002719, essv16002720, essv16002724, essv16002728, essv16002716, essv16002718, essv16002717, essv16002725, essv16002723
SamplesHG03559, NA21092, NA19762, NA19678, NA20905, HG03663, HG03744, HG03908, HG03900, HG03660, HG02649, HG02724, HG03615, NA20585
Known GenesHSH2D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643790
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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