A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10383111



Internal ID2459416
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589600
Supporting Variants
SamplesHG02165
Known GenesTMEM18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10383111
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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