A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599681



Internal ID6986726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12336945..12349861hg38UCSC Ensembl
chr4:12338569..12351485hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3812917
hg1912917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11358841, essv11358845, essv11358846, essv11358842, essv11358840, essv11358843, essv11358844
SamplesHG02026, HG02070, HG02084, HG01852, HG00956, HG01811, HG02113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599681
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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