A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618882



Internal ID7005764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132752674..132753325hg38UCSC Ensembl
Innerchr8:132752681..132753319hg38UCSC Ensembl
Outerchr8:132752668..132753332hg38UCSC Ensembl
chr8:133764920..133765571hg19UCSC Ensembl
Innerchr8:133764927..133765565hg19UCSC Ensembl
Outerchr8:133764914..133765578hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13338078, essv13338063, essv13338068, essv13338065, essv13338076, essv13338061, essv13338067, essv13338079, essv13338075, essv13338074, essv13338070, essv13338059, essv13338077, essv13338064, essv13338073, essv13338066, essv13338071, essv13338072, essv13338060, essv13338062, essv13338069
SamplesNA19141, HG02496, HG03121, NA19397, HG03300, HG03478, HG03199, NA19916, HG03479, HG03556, NA19159, HG03027, HG03024, NA19149, HG02010, HG03469, HG03103, HG03112, HG03060, HG01883, HG02643
Known GenesTMEM71
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618882
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer