A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676067



Internal ID9595486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8393302..8393462hg38UCSC Ensembl
chr4:8395029..8395189hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6393624, essv5845477, essv6430929, essv6400723, essv5554619, essv5403498, essv5863199, essv5581584, essv5478999, essv6152401, essv6561964, essv6410918, essv6104617, essv6091381, essv6274909, essv5622194, essv6573844, essv6361119, essv6043138, essv6418166, essv5752058, essv6260801, essv5474785, essv5556825, essv6568863, essv6479282, essv5743713, essv6564850, essv6499957, essv5410855, essv5690784, essv5691598, essv6262368, essv5724122, essv5764491, essv6389015, essv5698103, essv5816235, essv6410524, essv5995049, essv6245602, essv6243204, essv6366831, essv6144651, essv6490489, essv5665746, essv5811603, essv6052283, essv6503314, essv6093240, essv6488261, essv6562967, essv5706686, essv5420512, essv6228608, essv5618795, essv5677344, essv6327159, essv5527623, essv6001627, essv5817812, essv5831228, essv5653345, essv5663157, essv6055594, essv6141461, essv6402580, essv6233868, essv6407058, essv5818343, essv6480141, essv6495992, essv6459719, essv5945116, essv6269764, essv6289513, essv6043788, essv6350221, essv5985059, essv5881505, essv5947780, essv6360524, essv6221161, essv5992617, essv6082132, essv5759240, essv5746562, essv6511245, essv6077336, essv6481101, essv6319053, essv6155659, essv5658007, essv5598510, essv6540172, essv6570177, essv5421786, essv6060113, essv5768526
SamplesNA19137, HG00313, NA12249, HG00536, HG00257, NA11930, NA18871, HG00437, HG00500, HG01173, HG01083, NA18612, HG00464, NA19093, NA19401, NA11918, HG00310, HG00261, HG01389, HG00463, NA19359, HG01051, HG01365, HG00428, HG00139, HG00701, HG00334, HG00335, HG00319, NA18557, NA19147, NA18632, HG00543, HG00321, NA19383, HG00346, HG00421, HG00337, NA18635, NA18536, NA18622, HG00259, NA18623, HG01048, HG01061, HG00692, HG00315, HG00338, HG00419, NA12829, NA11894, HG01187, NA12830, HG00237, HG00662, HG00373, NA19360, HG00620, HG01437, HG00108, NA19393, NA19373, HG00325, HG00501, HG01356, NA18504, HG00249, HG00478, HG01080, HG00524, HG00329, HG00512, HG00534, HG01070, HG01060, NA18606, HG00427, HG00590, NA19138, NA19403, NA18544, HG00448, NA18602, HG00608, HG00654, NA11830, NA11992, NA12003, HG00285, NA19371, HG01108, HG00693, HG00320, HG00275, NA18549, HG00137, HG00271, HG00136, HG00327
Known GenesACOX3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676067
Frequency
Sample Size1151
Observed Gain0
Observed Loss99
Observed Complex0
Frequencyn/a


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