A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618119



Internal ID7005002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96335986..96339550hg38UCSC Ensembl
Innerchr8:96335992..96339545hg38UCSC Ensembl
Outerchr8:96335981..96339556hg38UCSC Ensembl
chr8:97348214..97351778hg19UCSC Ensembl
Innerchr8:97348220..97351773hg19UCSC Ensembl
Outerchr8:97348209..97351784hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383565
hg193565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13265988, essv13266003, essv13265995, essv13266005, essv13266007, essv13265987, essv13266000, essv13265993, essv13265990, essv13265991, essv13266008, essv13265997, essv13266006, essv13265989, essv13265998, essv13265996, essv13265992, essv13266011, essv13266001, essv13266004, essv13265994, essv13266002, essv13266010, essv13266009, essv13265999
SamplesHG02433, NA19020, HG03558, HG03130, HG03190, HG03139, HG01070, NA19197, NA18498, HG02885, NA19385, NA19036, HG02545, NA19247, HG02334, NA19175, HG03294, HG03301, NA19113, NA19401, HG03304, HG02839, NA18488, HG03271, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618119
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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