A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619092



Internal ID7005972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142925091..142931286hg38UCSC Ensembl
Innerchr8:142925091..142931286hg38UCSC Ensembl
Outerchr8:142924793..142931597hg38UCSC Ensembl
chr8:144006507..144012702hg19UCSC Ensembl
Innerchr8:144006507..144012702hg19UCSC Ensembl
Outerchr8:144006209..144013013hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386196
hg196196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13364421, essv13364416, essv13364420, essv13364418, essv13364415, essv13364422, essv13364417, essv13364419, essv13364414
SamplesNA19466, NA19023, NA19457, NA19038, NA19137, HG03202, NA19320, NA19375, NA19380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619092
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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