A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610778



Internal ID6651004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129848176..130076578hg38UCSC Ensembl
chr6:130169321..130397723hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38228403
hg19228403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12546257, essv12546255, essv12546258, essv12546256
SamplesHG03762, HG03998, HG03873, NA18646
Known GenesL3MBTL3, TMEM244
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610778
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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