A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628459



Internal ID6668602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8208160..8237249hg38UCSC Ensembl
chr12:8360756..8389845hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3829090
hg1929090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv247e214
Supporting Variantsessv14351428, essv14351410, essv14351431, essv14351424, essv14351419, essv14351430, essv14351415, essv14351432, essv14351449, essv14351456, essv14351455, essv14351425, essv14351413, essv14351445, essv14351465, essv14351461, essv14351450, essv14351417, essv14351452, essv14351454, essv14351414, essv14351429, essv14351436, essv14351469, essv14351435, essv14351411, essv14351444, essv14351463, essv14351466, essv14351420, essv14351467, essv14351426, essv14351439, essv14351447, essv14351443, essv14351427, essv14351441, essv14351446, essv14351458, essv14351418, essv14351422, essv14351470, essv14351453, essv14351437, essv14351468, essv14351438, essv14351421, essv14351442, essv14351451, essv14351460, essv14351423, essv14351459, essv14351448, essv14351457, essv14351440, essv14351409, essv14351416, essv14351464, essv14351462, essv14351412, essv14351434, essv14351433
SamplesHG01485, NA18621, HG01456, HG02040, NA19067, HG01694, NA12413, HG01513, HG00327, HG01953, NA19728, NA20774, HG01945, NA20822, NA20540, HG01840, HG00281, HG01281, HG03696, HG00422, HG04238, NA18990, NA12748, NA19007, HG03697, HG01867, HG03787, HG00328, NA20505, NA19077, HG00657, HG03805, HG04177, HG00324, NA12829, HG02008, HG01791, HG02292, NA19761, NA18945, HG01700, NA18629, HG00662, HG01577, HG01432, HG00478, HG03789, HG03977, HG01085, NA19770, HG00234, NA19726, HG02186, HG01672, NA20827, NA19063, NA12154, HG04061, HG02406, HG01927, HG01583, NA20509
Known GenesFAM86FP, FAM90A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628459
Frequency
Sample Size2504
Observed Gain62
Observed Loss0
Observed Complex0
Frequencyn/a


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