A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618014



Internal ID6658209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91103260..91173374hg38UCSC Ensembl
Innerchr8:91103267..91173368hg38UCSC Ensembl
Outerchr8:91103254..91173381hg38UCSC Ensembl
chr8:92115488..92185602hg19UCSC Ensembl
Innerchr8:92115495..92185596hg19UCSC Ensembl
Outerchr8:92115482..92185609hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3870115
hg1970115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13254097, essv13254100, essv13254096, essv13254099, essv13254101, essv13254088, essv13254095, essv13254098, essv13254093, essv13254092, essv13254103, essv13254102, essv13254091, essv13254090, essv13254105, essv13254104, essv13254094, essv13254089
SamplesHG01961, HG00361, NA19795, HG00179, NA19792, HG00334, HG02187, NA19722, HG00313, HG00266, HG00190, HG00475, HG00584, NA18948, HG01852, NA19773, HG00280, NA19063
Known GenesLRRC69
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618014
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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