A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617942



Internal ID7004825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:88279043..88280899hg38UCSC Ensembl
Innerchr8:88279043..88280899hg38UCSC Ensembl
Outerchr8:88278763..88281171hg38UCSC Ensembl
chr8:89291272..89293128hg19UCSC Ensembl
Innerchr8:89291272..89293128hg19UCSC Ensembl
Outerchr8:89290992..89293400hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381857
hg191857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13251569
SamplesHG02568
Known GenesMMP16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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