A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643745



Internal ID7030503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14549474..14551393hg38UCSC Ensembl
Innerchr19:14549524..14551343hg38UCSC Ensembl
Outerchr19:14549419..14551448hg38UCSC Ensembl
chr19:14660286..14662205hg19UCSC Ensembl
Innerchr19:14660336..14662155hg19UCSC Ensembl
Outerchr19:14660231..14662260hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381920
hg191920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15997375, essv15997383, essv15997362, essv15997381, essv15997352, essv15997390, essv15997377, essv15997378, essv15997393, essv15997385, essv15997367, essv15997360, essv15997351, essv15997368, essv15997379, essv15997374, essv15997403, essv15997371, essv15997395, essv15997394, essv15997380, essv15997363, essv15997401, essv15997399, essv15997406, essv15997389, essv15997353, essv15997388, essv15997382, essv15997358, essv15997355, essv15997386, essv15997350, essv15997370, essv15997405, essv15997364, essv15997356, essv15997398, essv15997372, essv15997404, essv15997361, essv15997373, essv15997392, essv15997400, essv15997402, essv15997384, essv15997357, essv15997376, essv15997397, essv15997391, essv15997359, essv15997365, essv15997366, essv15997387, essv15997354, essv15997396, essv15997369
SamplesHG03857, NA20853, HG03652, HG04158, HG02784, NA20878, HG03229, HG03792, HG03999, HG04156, NA20894, HG03640, NA20850, HG03490, HG03976, HG03873, HG02687, HG04182, HG04033, HG03897, HG04106, HG03693, HG04020, HG02780, HG03709, NA20904, HG03902, HG03714, HG02793, HG04162, HG03711, HG02775, HG03900, HG03775, HG02728, HG02787, HG03643, HG03953, HG02724, HG03969, HG03672, HG03755, HG03866, HG03790, HG02651, HG03488, HG03729, HG04140, HG04015, HG03789, HG03642, HG04014, NA20852, HG03998, HG03894, NA19430, HG03931
Known GenesTECR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643745
Frequency
Sample Size2504
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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