A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618131



Internal ID6658326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97107517..97107871hg38UCSC Ensembl
Innerchr8:97107517..97107871hg38UCSC Ensembl
Outerchr8:97107349..97108041hg38UCSC Ensembl
chr8:98119745..98120099hg19UCSC Ensembl
Innerchr8:98119745..98120099hg19UCSC Ensembl
Outerchr8:98119577..98120269hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13266940, essv13266933, essv13266939, essv13266934, essv13266937, essv13266935, essv13266936, essv13266938, essv13266932
SamplesHG02573, HG01440, HG02334, HG03476, HG03437, NA19037, NA19475, NA19185, HG03271
Known GenesCPQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618131
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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