A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10867423



Internal ID4280727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224592836..224604881hg38UCSC Ensembl
Innerchr2:224592871..224604847hg38UCSC Ensembl
Outerchr2:224592802..224604916hg38UCSC Ensembl
chr2:225457553..225469598hg19UCSC Ensembl
Innerchr2:225457588..225469564hg19UCSC Ensembl
Outerchr2:225457519..225469633hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3812046
hg1912046
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594471
Supporting Variants
SamplesHG03846
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10867423
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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