A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619033



Internal ID7005914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140397686..140512123hg38UCSC Ensembl
Innerchr8:140397836..140511973hg38UCSC Ensembl
Outerchr8:140397536..140512273hg38UCSC Ensembl
chr8:141407785..141522222hg19UCSC Ensembl
Innerchr8:141407935..141522072hg19UCSC Ensembl
Outerchr8:141407635..141522372hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38114438
hg19114438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13358278, essv13358277, essv13358275, essv13358274, essv13358276
SamplesNA19317, NA19026, NA19035, NA19017, NA19308
Known GenesCHRAC1, TRAPPC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619033
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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