A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616252



Internal ID7003139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11539734..11633716hg38UCSC Ensembl
Innerchr8:11539884..11633566hg38UCSC Ensembl
Outerchr8:11539584..11633866hg38UCSC Ensembl
chr8:11397243..11491225hg19UCSC Ensembl
Innerchr8:11397393..11491075hg19UCSC Ensembl
Outerchr8:11397093..11491375hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3893983
hg1993983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1374e214
Supporting Variantsessv13103952, essv13103951, essv13103953
SamplesHG03045, HG01176, HG01200
Known GenesBLK, LINC00208
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616252
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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