A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587013



Internal ID6627320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103560121..103594054hg38UCSC Ensembl
chr1:104102743..104136676hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3833934
hg1933934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e214
Supporting Variantsessv10039350, essv10039356, essv10039355, essv10039363, essv10039345, essv10039352, essv10039337, essv10039343, essv10039368, essv10039370, essv10039340, essv10039379, essv10039349, essv10039354, essv10039371, essv10039372, essv10039357, essv10039339, essv10039367, essv10039336, essv10039361, essv10039358, essv10039346, essv10039365, essv10039374, essv10039342, essv10039376, essv10039347, essv10039359, essv10039344, essv10039375, essv10039366, essv10039353, essv10039360, essv10039348, essv10039338, essv10039334, essv10039377, essv10039369, essv10039378, essv10039364, essv10039373, essv10039351, essv10039341, essv10039362, essv10039335
SamplesNA19703, NA19332, HG03241, NA20346, NA20356, NA19446, HG03074, HG04022, HG04042, HG03765, HG02860, NA19023, HG02054, HG02143, HG01398, HG03268, NA20340, NA19159, HG02571, HG01058, NA20342, NA20127, HG03585, HG03394, NA19789, NA19200, HG02479, HG03787, NA19152, HG01094, HG02429, HG03951, NA19042, NA19338, NA21142, HG02568, HG01956, HG01589, HG00128, HG02722, HG04006, HG02010, NA19310, NA19116, HG02052, HG03271
Known GenesACTG1P4, AMY2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587013
Frequency
Sample Size2504
Observed Gain46
Observed Loss0
Observed Complex0
Frequencyn/a


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