A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617297



Internal ID7004183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56248755..56255953hg38UCSC Ensembl
chr8:57161314..57168512hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387199
hg197199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204446, essv13204443, essv13204441, essv13204442, essv13204445, essv13204440, essv13204444
SamplesNA20771, NA19075, NA18954, NA18951, NA19082, NA19072, NA20886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617297
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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