A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643826



Internal ID6683895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17884296..17885007hg38UCSC Ensembl
Innerchr19:17884323..17884981hg38UCSC Ensembl
Outerchr19:17884270..17885034hg38UCSC Ensembl
chr19:17995105..17995816hg19UCSC Ensembl
Innerchr19:17995132..17995790hg19UCSC Ensembl
Outerchr19:17995079..17995843hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003825, essv16003808, essv16003816, essv16003840, essv16003832, essv16003823, essv16003838, essv16003810, essv16003809, essv16003833, essv16003827, essv16003831, essv16003822, essv16003837, essv16003800, essv16003820, essv16003818, essv16003804, essv16003836, essv16003830, essv16003801, essv16003811, essv16003812, essv16003828, essv16003802, essv16003829, essv16003824, essv16003814, essv16003806, essv16003835, essv16003807, essv16003815, essv16003821, essv16003834, essv16003805, essv16003813, essv16003819, essv16003803, essv16003839, essv16003826, essv16003817
SamplesHG03366, NA19355, HG03190, NA18878, HG01632, NA19098, NA20356, NA19201, HG02325, HG03485, HG01063, HG03209, HG02561, NA19372, NA20764, NA19209, HG03120, HG02334, HG01162, HG01323, HG02470, HG02537, HG03294, NA18907, HG03078, HG01241, HG03024, NA19625, HG01990, HG02557, NA20351, HG02314, NA19835, HG03108, HG03103, NA19328, NA18501, NA19223, HG02013, NA18505, HG00553
Known GenesSLC5A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643826
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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