A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591981



Internal ID6979308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111260518..111418791hg38UCSC Ensembl
chr2:112018095..112176368hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38158274
hg19158274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv731e214
Supporting Variantsessv10622557, essv10622539, essv10622547, essv10622534, essv10622587, essv10622554, essv10622560, essv10622569, essv10622590, essv10622599, essv10622583, essv10622537, essv10622584, essv10622559, essv10622601, essv10622540, essv10622573, essv10622558, essv10622588, essv10622538, essv10622597, essv10622544, essv10622591, essv10622561, essv10622551, essv10622572, essv10622549, essv10622586, essv10622536, essv10622550, essv10622594, essv10622577, essv10622579, essv10622593, essv10622564, essv10622548, essv10622585, essv10622546, essv10622596, essv10622598, essv10622600, essv10622574, essv10622565, essv10622575, essv10622562, essv10622580, essv10622581, essv10622568, essv10622545, essv10622535, essv10622567, essv10622602, essv10622543, essv10622552, essv10622592, essv10622589, essv10622571, essv10622595, essv10622570, essv10622576, essv10622553, essv10622555, essv10622541, essv10622582, essv10622566, essv10622542, essv10622556, essv10622563, essv10622578
SamplesHG03773, NA20761, HG04096, NA20853, NA19909, HG03960, HG01773, NA12400, HG01682, HG02085, NA07048, HG03874, NA12283, NA19054, HG00537, NA12761, HG03897, HG00867, HG01757, NA12044, NA18617, HG02420, NA20869, NA20884, HG02570, NA20535, HG00731, HG02793, HG02025, NA20885, NA20809, HG00556, NA21118, NA20875, NA20876, HG00324, HG03858, NA21112, NA11894, HG02725, NA19756, HG04159, HG00126, NA12546, NA12043, HG04025, HG03866, NA21117, HG04188, HG01597, NA18961, HG03539, HG03695, HG02314, NA20888, NA20847, NA21090, HG03849, HG02116, HG03077, NA18552, HG03890, HG02805, NA07000, HG01061, NA21120, NA18965, NA20509, NA20511
Known GenesMIR4435-1, MIR4435-1HG, MIR4435-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591981
Frequency
Sample Size2504
Observed Gain69
Observed Loss0
Observed Complex0
Frequencyn/a


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