A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307770



Internal ID15154718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58570382..58570383hg38UCSC Ensembl
Innerchr8:58570278..58570487hg38UCSC Ensembl
Outerchr8:58570277..58570488hg38UCSC Ensembl
chr8:59482941..59482942hg19UCSC Ensembl
Innerchr8:59482837..59483046hg19UCSC Ensembl
Outerchr8:59482836..59483047hg19UCSC Ensembl
chr8:59645495..59645496hg18UCSC Ensembl
Innerchr8:59645600..59645391hg18UCSC Ensembl
Outerchr8:59645390..59645601hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7757198, essv7756225, essv7750440, essv7763281
SamplesNA12045, NA18870, NA18907, NA19257
Known GenesSDCBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307770
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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