A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13164645



Internal ID830884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:34697104..34699123hg38UCSC Ensembl
Innerchr8:34697107..34699120hg38UCSC Ensembl
Outerchr8:34697101..34699126hg38UCSC Ensembl
chr8:34554622..34556641hg19UCSC Ensembl
Innerchr8:34554625..34556638hg19UCSC Ensembl
Outerchr8:34554619..34556644hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382020
hg192020
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616862
Supporting Variants
SamplesHG00421
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13164645
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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