A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10839472



Internal ID868622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212314974..212529791hg38UCSC Ensembl
chr2:213179699..213394515hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38214818
hg19214817
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594200
Supporting Variants
SamplesHG00458
Known GenesERBB4, MIR548F2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10839472
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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