A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12412674



Internal ID2414490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71273191..71301467hg38UCSC Ensembl
chr6:71982894..72011170hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3828277
hg1928277
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609459
Supporting Variants
SamplesHG02386
Known GenesOGFRL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12412674
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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