A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644788



Internal ID7031540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54224126..54243061hg38UCSC Ensembl
chr19:54727998..54746910hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3818936
hg1918913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv671e214
Supporting Variantsessv16092302, essv16092301, essv16092298, essv16092277, essv16092336, essv16092307, essv16092323, essv16092304, essv16092276, essv16092300, essv16092315, essv16092289, essv16092329, essv16092326, essv16092284, essv16092317, essv16092333, essv16092274, essv16092295, essv16092297, essv16092313, essv16092320, essv16092303, essv16092293, essv16092308, essv16092285, essv16092335, essv16092319, essv16092299, essv16092330, essv16092292, essv16092316, essv16092321, essv16092314, essv16092332, essv16092288, essv16092306, essv16092283, essv16092281, essv16092311, essv16092294, essv16092280, essv16092278, essv16092325, essv16092279, essv16092291, essv16092305, essv16092312, essv16092310, essv16092327, essv16092322, essv16092328, essv16092318, essv16092296, essv16092334, essv16092324, essv16092309, essv16092286, essv16092282, essv16092275, essv16092290, essv16092331, essv16092287
SamplesHG01985, HG03800, NA19466, NA19378, HG03057, NA18504, HG03297, NA19190, NA19314, HG00097, NA19171, NA19319, HG03754, NA20798, HG03485, HG02143, HG03520, NA19385, NA19036, HG02502, NA21129, HG03750, HG00178, HG03394, HG02882, NA19789, NA19027, HG01256, HG01122, NA18933, NA19184, HG03291, NA19391, NA19043, NA19982, NA20875, NA20770, HG02817, HG03397, NA18856, NA19099, HG02332, NA19160, HG02586, HG01896, HG02722, HG01363, HG00742, NA19773, HG01375, NA19439, HG01108, HG02814, HG02095, NA19472, HG03258, HG01269, HG03401, HG01431, NA19312, NA20827, HG01776, NA19074
Known GenesLILRA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644788
Frequency
Sample Size2504
Observed Gain63
Observed Loss0
Observed Complex0
Frequencyn/a


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