A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338074



Internal ID3897078
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618882
Supporting Variants
SamplesHG03556
Known GenesTMEM71
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338074
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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