A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616808



Internal ID6657004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32294719..32297489hg38UCSC Ensembl
Innerchr8:32294721..32297487hg38UCSC Ensembl
Outerchr8:32294717..32297491hg38UCSC Ensembl
chr8:32152235..32155005hg19UCSC Ensembl
Innerchr8:32152237..32155003hg19UCSC Ensembl
Outerchr8:32152233..32155007hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382771
hg192771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13156540, essv13156532, essv13156541, essv13156546, essv13156553, essv13156557, essv13156543, essv13156566, essv13156534, essv13156535, essv13156568, essv13156565, essv13156544, essv13156536, essv13156538, essv13156569, essv13156563, essv13156537, essv13156550, essv13156561, essv13156567, essv13156533, essv13156560, essv13156548, essv13156556, essv13156531, essv13156570, essv13156545, essv13156555, essv13156542, essv13156559, essv13156539, essv13156552, essv13156554, essv13156551, essv13156558, essv13156564, essv13156547, essv13156549, essv13156562
SamplesNA19012, NA18605, NA19089, NA18630, NA18975, NA19090, HG01794, NA19072, HG01860, NA18625, NA18949, NA18559, NA19054, NA18617, HG02373, NA18531, NA18609, NA18593, HG02131, NA18640, NA18620, NA18986, NA19002, NA18558, NA18942, NA19001, HG00513, NA18997, HG00729, HG00410, NA18597, HG00443, HG02182, NA18538, NA18614, NA19064, HG00693, NA19079, NA19065, NA18962
Known GenesNRG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616808
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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