A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588737



Internal ID6976153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211791667..211792440hg38UCSC Ensembl
Innerchr1:211791668..211792440hg38UCSC Ensembl
Outerchr1:211791667..211792441hg38UCSC Ensembl
chr1:211965009..211965782hg19UCSC Ensembl
Innerchr1:211965010..211965782hg19UCSC Ensembl
Outerchr1:211965009..211965783hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285430, essv10285435, essv10285464, essv10285445, essv10285469, essv10285465, essv10285463, essv10285479, essv10285447, essv10285475, essv10285455, essv10285452, essv10285457, essv10285454, essv10285433, essv10285476, essv10285448, essv10285431, essv10285451, essv10285450, essv10285471, essv10285462, essv10285474, essv10285458, essv10285459, essv10285436, essv10285456, essv10285461, essv10285444, essv10285432, essv10285429, essv10285468, essv10285441, essv10285477, essv10285470, essv10285442, essv10285434, essv10285449, essv10285453, essv10285440, essv10285439, essv10285460, essv10285473, essv10285478, essv10285437, essv10285443, essv10285466, essv10285438, essv10285467, essv10285446, essv10285472
SamplesHG00096, NA20761, HG01624, NA12414, NA12843, NA20531, HG00257, HG00737, NA20517, NA19764, NA20890, HG01064, NA20756, HG01372, NA12005, HG02493, HG01767, NA19317, HG01405, HG01525, HG00365, HG02233, NA12878, HG02102, HG01414, NA19118, HG03660, HG01536, HG01101, NA12827, HG03672, HG01075, HG01700, NA20821, HG01148, NA20872, NA20522, HG00383, NA12716, HG01131, HG00742, HG01685, HG00136, NA20520, HG03789, HG01917, NA21090, HG00342, NA20758, HG01781, HG01695
Known GenesLPGAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588737
Frequency
Sample Size2504
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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