A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617127



Internal ID7004013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48911633..48917362hg38UCSC Ensembl
Innerchr8:48911633..48917362hg38UCSC Ensembl
Outerchr8:48911494..48917490hg38UCSC Ensembl
chr8:49824192..49829921hg19UCSC Ensembl
Innerchr8:49824192..49829921hg19UCSC Ensembl
Outerchr8:49824053..49830049hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg385730
hg195730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13194952
SamplesHG02878
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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