A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470752



Internal ID5659928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39179312..39192958hg38UCSC Ensembl
Innerchr2:39179334..39192936hg38UCSC Ensembl
Outerchr2:39179290..39192980hg38UCSC Ensembl
chr2:39406453..39420099hg19UCSC Ensembl
Innerchr2:39406475..39420077hg19UCSC Ensembl
Outerchr2:39406431..39420121hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3813647
hg1913647
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590428
Supporting Variants
SamplesNA19072
Known GenesCDKL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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