A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13335149



Internal ID520856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132704397..132715000hg38UCSC Ensembl
Innerchr8:132704399..132714999hg38UCSC Ensembl
Outerchr8:132704396..132715002hg38UCSC Ensembl
chr8:133716643..133727246hg19UCSC Ensembl
Innerchr8:133716645..133727245hg19UCSC Ensembl
Outerchr8:133716642..133727248hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3810604
hg1910604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618878
Supporting Variants
SamplesHG00187
Known GenesTMEM71
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13335149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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