A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616250



Internal ID6656447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11534628..11585574hg38UCSC Ensembl
chr8:11392137..11443083hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3850947
hg1950947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13103946, essv13103948, essv13103947
SamplesHG03045, HG01176, HG01200
Known GenesBLK, LINC00208
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616250
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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