A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12546262



Internal ID2548078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130108614..130242086hg38UCSC Ensembl
chr6:130429759..130563231hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38133473
hg19133473
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610781
Supporting Variants
SamplesHG03873
Known GenesL3MBTL3, SAMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12546262
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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