A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12546256



Internal ID2548072
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610778
Supporting Variants
SamplesHG03873
Known GenesL3MBTL3, TMEM244
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12546256
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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