A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617091



Internal ID6657287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47242260..47325695hg38UCSC Ensembl
chr8:48154852..48238284hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3883436
hg1983433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13192245, essv13192246
SamplesNA20342, HG00117
Known GenesSPIDR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617091
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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