A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643818



Internal ID6683887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17331902..17338827hg38UCSC Ensembl
chr19:17442711..17449636hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg386926
hg196926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003617, essv16003621, essv16003639, essv16003653, essv16003627, essv16003643, essv16003662, essv16003650, essv16003636, essv16003620, essv16003640, essv16003618, essv16003632, essv16003623, essv16003673, essv16003669, essv16003664, essv16003628, essv16003656, essv16003646, essv16003645, essv16003652, essv16003649, essv16003676, essv16003635, essv16003638, essv16003630, essv16003658, essv16003629, essv16003663, essv16003631, essv16003641, essv16003675, essv16003634, essv16003615, essv16003647, essv16003657, essv16003614, essv16003670, essv16003667, essv16003672, essv16003624, essv16003642, essv16003660, essv16003637, essv16003665, essv16003674, essv16003655, essv16003622, essv16003633, essv16003644, essv16003668, essv16003625, essv16003648, essv16003671, essv16003626, essv16003659, essv16003666, essv16003654, essv16003661, essv16003651, essv16003619, essv16003616
SamplesNA21110, HG01173, HG04222, NA19378, HG01188, HG02661, HG03015, HG02215, HG00150, HG02792, HG00109, HG02491, HG03917, HG03830, HG02493, HG01519, HG00262, HG00113, HG03788, HG03888, HG01767, HG03693, NA12815, NA12828, NA20587, NA11831, HG00133, HG00245, HG00344, HG01345, HG04180, HG01390, HG03730, HG03660, HG00373, HG02649, HG01791, HG03740, HG02724, HG03991, HG00128, NA19712, NA20815, HG03488, HG03870, HG03727, NA21094, NA12763, HG01342, NA21125, HG04080, HG00371, NA21088, NA20868, HG03733, HG01055, NA21101, NA20758, HG00274, HG03955, HG01578, NA20509, HG03741
Known GenesANO8, GTPBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643818
Frequency
Sample Size2504
Observed Gain63
Observed Loss0
Observed Complex0
Frequencyn/a


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