A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10867538



Internal ID5192336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225825513..225849304hg38UCSC Ensembl
Innerchr2:225825519..225849299hg38UCSC Ensembl
Outerchr2:225825508..225849310hg38UCSC Ensembl
chr2:226690229..226714020hg19UCSC Ensembl
Innerchr2:226690235..226714015hg19UCSC Ensembl
Outerchr2:226690224..226714026hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3823792
hg1923792
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594495
Supporting Variants
SamplesNA18611
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10867538
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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