A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618771



Internal ID6658965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127302689..127305162hg38UCSC Ensembl
Innerchr8:127302702..127305150hg38UCSC Ensembl
Outerchr8:127302677..127305175hg38UCSC Ensembl
chr8:128314934..128317407hg19UCSC Ensembl
Innerchr8:128314947..128317395hg19UCSC Ensembl
Outerchr8:128314922..128317420hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg382474
hg192474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13321325
SamplesNA21142
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618771
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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