A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643549



Internal ID7030308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6266544..6267190hg38UCSC Ensembl
Innerchr19:6266556..6267179hg38UCSC Ensembl
Outerchr19:6266533..6267202hg38UCSC Ensembl
chr19:6266555..6267201hg19UCSC Ensembl
Innerchr19:6266567..6267190hg19UCSC Ensembl
Outerchr19:6266544..6267213hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15985831, essv15985840, essv15985851, essv15985834, essv15985850, essv15985857, essv15985847, essv15985855, essv15985854, essv15985839, essv15985853, essv15985837, essv15985849, essv15985833, essv15985846, essv15985841, essv15985843, essv15985848, essv15985844, essv15985838, essv15985852, essv15985835, essv15985856, essv15985845, essv15985832, essv15985842, essv15985836
SamplesHG00592, NA21097, HG01795, HG02375, NA18980, NA18625, HG00879, HG02151, NA18614, HG02402, NA18644, HG02076, NA18757, NA18548, NA18573, NA19000, NA18626, HG01593, NA18608, HG02064, HG01874, NA20897, HG02392, HG00698, HG01863, NA18612, NA18965
Known GenesMLLT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643549
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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