A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617550



Internal ID7004435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69518979..69553607hg38UCSC Ensembl
Innerchr8:69519129..69553457hg38UCSC Ensembl
Outerchr8:69518829..69553757hg38UCSC Ensembl
chr8:70431214..70465842hg19UCSC Ensembl
Innerchr8:70431364..70465692hg19UCSC Ensembl
Outerchr8:70431064..70465992hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3834629
hg1934629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13219253
SamplesHG02133
Known GenesSULF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617550
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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