A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610250



Internal ID6997167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:105000751..105138229hg38UCSC Ensembl
chr6:105448626..105586104hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38137479
hg19137479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12496764
SamplesNA11881
Known GenesBVES, BVES-AS1, LIN28B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610250
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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