A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618088



Internal ID7004971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94765717..94772889hg38UCSC Ensembl
Innerchr8:94765717..94772889hg38UCSC Ensembl
Outerchr8:94765217..94773389hg38UCSC Ensembl
chr8:95777945..95785117hg19UCSC Ensembl
Innerchr8:95777945..95785117hg19UCSC Ensembl
Outerchr8:95777445..95785617hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg387173
hg197173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13260864
SamplesHG02127
Known GenesDPY19L4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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