A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10867434



Internal ID869250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224745736..224810299hg38UCSC Ensembl
chr2:225610453..225675016hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3864564
hg1964564
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594478
Supporting Variants
SamplesHG02111
Known GenesDOCK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10867434
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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