A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594210



Internal ID6981530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212485509..212508534hg38UCSC Ensembl
chr2:213350233..213373258hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3823026
hg1923026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10839620
SamplesHG00458
Known GenesERBB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594210
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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