A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587730



Internal ID6975153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161518654..161550169hg38UCSC Ensembl
chr1:161488444..161519959hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3831516
hg1931516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10168415, essv10168404, essv10168363, essv10168439, essv10168392, essv10168376, essv10168429, essv10168379, essv10168403, essv10168377, essv10168386, essv10168387, essv10168414, essv10168369, essv10168370, essv10168413, essv10168381, essv10168424, essv10168380, essv10168434, essv10168409, essv10168420, essv10168373, essv10168394, essv10168430, essv10168364, essv10168398, essv10168421, essv10168388, essv10168396, essv10168443, essv10168366, essv10168418, essv10168436, essv10168406, essv10168442, essv10168399, essv10168395, essv10168411, essv10168367, essv10168438, essv10168437, essv10168378, essv10168375, essv10168371, essv10168433, essv10168407, essv10168384, essv10168365, essv10168419, essv10168410, essv10168397, essv10168425, essv10168416, essv10168432, essv10168426, essv10168417, essv10168408, essv10168383, essv10168440, essv10168444, essv10168428, essv10168374, essv10168372, essv10168427, essv10168423, essv10168422, essv10168382, essv10168412, essv10168402, essv10168401, essv10168368, essv10168441, essv10168385, essv10168390, essv10168393, essv10168400, essv10168391, essv10168431, essv10168435, essv10168405, essv10168389
SamplesNA19394, NA18998, HG03096, HG00442, NA19700, NA21097, NA20766, NA12286, HG02122, HG01280, HG03607, HG01066, NA18603, HG04094, HG03616, NA18616, NA20806, NA18627, HG00337, NA12813, HG03199, HG00689, HG03091, NA18567, NA18558, HG01459, HG03342, NA12283, NA21103, HG01848, HG01510, HG01668, NA19719, NA11994, HG03352, NA19725, HG00338, HG01967, NA19789, HG01942, HG02716, HG01139, NA20854, HG03844, HG02977, HG01248, HG00380, NA19056, HG00360, HG01789, HG00701, HG00556, HG00598, NA19658, HG00740, HG02817, HG01613, NA18946, HG00157, HG03854, HG02896, HG03934, HG02223, HG03899, NA20351, HG03869, HG02941, NA20504, HG03304, HG01113, HG02464, NA19083, NA20797, NA06986, HG00513, HG03646, NA18987, NA19213, HG01479, HG02406, HG01583, HG01507
Known GenesFCGR2A, FCGR3A, HSPA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587730
Frequency
Sample Size2504
Observed Gain82
Observed Loss0
Observed Complex0
Frequencyn/a


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