A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622023



Internal ID6662194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137165910..137174346hg38UCSC Ensembl
chr9:140060362..140068798hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388437
hg198437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13657597, essv13657631, essv13657652, essv13657624, essv13657621, essv13657628, essv13657611, essv13657613, essv13657648, essv13657619, essv13657608, essv13657591, essv13657596, essv13657612, essv13657593, essv13657653, essv13657602, essv13657632, essv13657650, essv13657644, essv13657646, essv13657610, essv13657617, essv13657601, essv13657616, essv13657598, essv13657606, essv13657636, essv13657614, essv13657603, essv13657604, essv13657643, essv13657590, essv13657639, essv13657630, essv13657623, essv13657629, essv13657592, essv13657649, essv13657609, essv13657595, essv13657626, essv13657627, essv13657618, essv13657600, essv13657654, essv13657620, essv13657647, essv13657607, essv13657640, essv13657594, essv13657633, essv13657637, essv13657605, essv13657635, essv13657625, essv13657634, essv13657645, essv13657651, essv13657615, essv13657638, essv13657641, essv13657642, essv13657622, essv13657599
SamplesNA19028, NA19794, HG01624, NA18647, HG01348, HG00351, NA19734, NA18641, NA18639, HG02277, HG00452, NA19314, HG00097, HG02285, HG01702, HG02140, HG02485, NA19307, NA18642, NA21108, HG00451, NA19038, HG02278, HG00130, NA19923, NA19041, HG02003, NA21109, HG01628, NA18748, HG02138, HG02104, HG01626, NA18640, NA21105, HG02479, NA18645, NA18525, HG02090, HG00428, NA21119, NA19984, HG02084, NA18939, HG01345, NA18757, HG00350, NA21112, NA19031, NA18946, HG02141, NA19740, HG02081, HG01625, HG02484, HG01896, NA19035, HG02089, NA19309, NA19735, HG02088, NA12873, NA12874, NA18957, HG00345
Known GenesGRIN1, LRRC26, MIR3621, TMEM210
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622023
Frequency
Sample Size2504
Observed Gain65
Observed Loss0
Observed Complex0
Frequencyn/a


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