A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634914



Internal ID7021714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73561433..73573896hg38UCSC Ensembl
chr14:74028137..74040600hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3812464
hg1912464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv408e214
Supporting Variantsessv15059582, essv15059543, essv15059552, essv15059583, essv15059547, essv15059581, essv15059517, essv15059572, essv15059578, essv15059553, essv15059522, essv15059551, essv15059564, essv15059570, essv15059526, essv15059519, essv15059518, essv15059563, essv15059525, essv15059546, essv15059528, essv15059585, essv15059575, essv15059574, essv15059520, essv15059584, essv15059545, essv15059515, essv15059537, essv15059550, essv15059524, essv15059540, essv15059580, essv15059538, essv15059569, essv15059573, essv15059542, essv15059523, essv15059541, essv15059558, essv15059567, essv15059531, essv15059532, essv15059557, essv15059561, essv15059554, essv15059579, essv15059556, essv15059521, essv15059544, essv15059548, essv15059562, essv15059566, essv15059576, essv15059568, essv15059530, essv15059516, essv15059560, essv15059571, essv15059577, essv15059535, essv15059533, essv15059536, essv15059559, essv15059549, essv15059527, essv15059539, essv15059565, essv15059534, essv15059555, essv15059586, essv15059529
SamplesHG02339, HG03484, HG01031, NA19914, HG02973, NA20294, HG03190, NA19377, HG03139, NA19098, NA20356, HG01924, NA19374, HG02151, NA20320, HG02595, HG03370, HG02549, HG03342, NA19138, NA20291, HG01242, HG02461, NA20342, HG03583, HG02715, HG02879, HG03343, HG02977, NA19210, NA19437, HG03132, NA19462, NA18933, HG01077, HG03159, NA19118, HG03136, HG02445, NA19113, HG03571, HG03046, NA19318, HG02586, HG02675, HG02484, HG02722, HG02330, NA19309, NA19108, NA19454, HG03469, HG03473, HG03108, HG01342, HG03103, HG00478, HG02974, HG02095, HG02970, HG01912, NA20510, HG04209, NA19146, NA19312, HG02465, HG02284, HG02808, HG02643, HG03303, HG03129, NA19346
Known GenesACOT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634914
Frequency
Sample Size2504
Observed Gain72
Observed Loss0
Observed Complex0
Frequencyn/a


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