A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618723



Internal ID7005605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125402797..125403834hg38UCSC Ensembl
Innerchr8:125402831..125403800hg38UCSC Ensembl
Outerchr8:125402763..125403868hg38UCSC Ensembl
chr8:126415039..126416076hg19UCSC Ensembl
Innerchr8:126415073..126416042hg19UCSC Ensembl
Outerchr8:126415005..126416110hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13316177, essv13316178
SamplesNA19443, HG04106
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618723
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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