A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594178



Internal ID6981498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211744006..211847832hg38UCSC Ensembl
chr2:212608731..212712557hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38103827
hg19103827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10835615
SamplesHG00458
Known GenesERBB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594178
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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