A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589600



Internal ID6976929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:314968..694521hg38UCSC Ensembl
chr2:314968..694521hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38379554
hg19379554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv674e214
Supporting Variantsessv10383112, essv10383111
SamplesHG02360, HG02165
Known GenesTMEM18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589600
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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