A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433129



Internal ID434945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25445103..25449919hg38UCSC Ensembl
Innerchr2:25445125..25449897hg38UCSC Ensembl
Outerchr2:25445081..25449941hg38UCSC Ensembl
chr2:25667972..25672788hg19UCSC Ensembl
Innerchr2:25667994..25672766hg19UCSC Ensembl
Outerchr2:25667950..25672810hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg384817
hg194817
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590093
Supporting Variants
SamplesHG04152
Known GenesDTNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433129
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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