A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644596



Internal ID7031350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48680288..48703254hg38UCSC Ensembl
Innerchr19:48680338..48703204hg38UCSC Ensembl
Outerchr19:48680092..48703450hg38UCSC Ensembl
chr19:49183545..49206511hg19UCSC Ensembl
Innerchr19:49183595..49206461hg19UCSC Ensembl
Outerchr19:49183349..49206707hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3822967
hg1922967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16072913, essv16072911, essv16072919, essv16072921, essv16072918, essv16072914, essv16072920, essv16072915, essv16072917, essv16072916, essv16072910, essv16072909, essv16072912
SamplesNA18967, NA18977, NA19087, NA19002, NA18973, NA19091, NA19006, NA18991, NA19001, HG03643, NA19059, NA18941, NA18957
Known GenesFUT2, SEC1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644596
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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