A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv719e214



Internal ID22756613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:87629180..87698116hg38UCSC Ensembl
chr2:87928699..87997635hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3868937
hg1968937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3591580, esv3591581
SamplesHG03773, NA20761, NA19648, HG04096, NA20853, HG03960, HG01773, HG00318, NA12400, HG02285, HG04059, HG00356, HG01682, NA19728, HG01277, NA07048, HG03874, NA12283, HG01354, HG00537, HG00158, NA12761, HG03897, HG00867, HG01757, NA12044, NA18617, HG02420, NA20869, NA20884, HG00313, HG00154, HG02570, NA20535, HG00183, HG02793, HG02152, HG02025, NA20885, NA20809, HG02731, HG00556, NA21118, NA20875, NA20876, HG00324, HG03858, NA21112, NA11894, HG02649, HG02725, NA19756, HG04159, NA12546, NA12043, HG04025, HG03866, NA21117, HG04188, HG01597, HG03539, HG03695, HG02314, NA21123, HG01866, NA20792, NA20888, NA20847, HG03646, NA21090, HG03849, HG00288, HG02116, HG03077, NA18552, HG03890, HG02805, NA07000, HG01061, NA21120, NA18965, NA20509, NA20511
Known GenesMIR4435-1, MIR4435-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv719e214
Frequency
Sample Size2504
Observed Gain83
Observed Loss0
Observed Complex0
Frequencyn/a


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