A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618705



Internal ID7005587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124855007..124959700hg38UCSC Ensembl
Innerchr8:124855157..124959550hg38UCSC Ensembl
Outerchr8:124854857..124959850hg38UCSC Ensembl
chr8:125867249..125971942hg19UCSC Ensembl
Innerchr8:125867399..125971792hg19UCSC Ensembl
Outerchr8:125867099..125972092hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38104694
hg19104694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1416e214
Supporting Variantsessv13312383, essv13312382
SamplesNA19917, HG00123
Known GenesLINC00964
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618705
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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