A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13210129



Internal ID6540971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60598308..60609321hg38UCSC Ensembl
Innerchr8:60598358..60609271hg38UCSC Ensembl
Outerchr8:60598258..60609371hg38UCSC Ensembl
chr8:61510867..61521880hg19UCSC Ensembl
Innerchr8:61510917..61521830hg19UCSC Ensembl
Outerchr8:61510817..61521930hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3811014
hg1911014
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617376
Supporting Variants
SamplesNA20587
Known GenesRAB2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13210129
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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