A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433779



Internal ID2955391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26294175..26303533hg38UCSC Ensembl
Innerchr2:26294190..26303519hg38UCSC Ensembl
Outerchr2:26294161..26303548hg38UCSC Ensembl
chr2:26517043..26526401hg19UCSC Ensembl
Innerchr2:26517058..26526387hg19UCSC Ensembl
Outerchr2:26517029..26526416hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg389359
hg199359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590116
Supporting Variants
SamplesHG02611
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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