A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645078



Internal ID7031829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4464674..4468882hg38UCSC Ensembl
Innerchr20:4464675..4468881hg38UCSC Ensembl
Outerchr20:4464673..4468883hg38UCSC Ensembl
chr20:4445321..4449529hg19UCSC Ensembl
Innerchr20:4445322..4449528hg19UCSC Ensembl
Outerchr20:4445320..4449530hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg384209
hg194209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16123801, essv16123756, essv16123764, essv16123785, essv16123779, essv16123798, essv16123800, essv16123803, essv16123788, essv16123751, essv16123811, essv16123787, essv16123790, essv16123781, essv16123810, essv16123762, essv16123791, essv16123770, essv16123802, essv16123772, essv16123778, essv16123786, essv16123783, essv16123753, essv16123769, essv16123793, essv16123767, essv16123761, essv16123768, essv16123799, essv16123752, essv16123755, essv16123796, essv16123763, essv16123813, essv16123789, essv16123758, essv16123794, essv16123805, essv16123760, essv16123775, essv16123795, essv16123780, essv16123807, essv16123765, essv16123759, essv16123771, essv16123806, essv16123766, essv16123774, essv16123776, essv16123792, essv16123808, essv16123812, essv16123804, essv16123754, essv16123773, essv16123777, essv16123797, essv16123757, essv16123784, essv16123782, essv16123809
SamplesHG03514, HG01965, NA19332, HG03111, HG01531, HG03455, HG03100, NA19746, NA18916, HG02981, HG02281, NA19041, HG01398, HG03268, HG02634, NA20340, NA19445, NA19200, HG02479, NA19210, NA19347, HG03547, HG03291, NA19043, HG02554, HG02953, HG01142, HG03575, HG03081, HG03123, HG03202, HG02577, HG03078, HG01241, HG02884, HG02292, HG02586, HG01988, HG02484, HG03240, NA19149, HG01894, HG03117, NA19334, HG02317, NA19328, HG03442, NA19438, NA19223, NA19351, HG02053, NA19713, NA19093, HG03063, NA19116, HG02947, NA18505, NA19146, NA19312, HG03198, HG03166, NA19431, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645078
Frequency
Sample Size2504
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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