A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618120



Internal ID7005003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96415028..96418063hg38UCSC Ensembl
Innerchr8:96415028..96418063hg38UCSC Ensembl
Outerchr8:96414528..96418563hg38UCSC Ensembl
chr8:97427256..97430291hg19UCSC Ensembl
Innerchr8:97427256..97430291hg19UCSC Ensembl
Outerchr8:97426756..97430791hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383036
hg193036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13266013, essv13266018, essv13266012, essv13266016, essv13266020, essv13266017, essv13266015, essv13266019, essv13266014
SamplesHG01455, HG02252, HG01673, HG01360, HG01345, HG01363, NA12272, HG01431, HG04153
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618120
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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