A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12542265



Internal ID2544081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128878523..129043684hg38UCSC Ensembl
chr6:129199668..129364829hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38165162
hg19165162
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610752
Supporting Variants
SamplesHG01796
Known GenesLAMA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12542265
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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