A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10437151



Internal ID770351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28263041..28267013hg38UCSC Ensembl
Innerchr2:28263071..28266983hg38UCSC Ensembl
Outerchr2:28263011..28267043hg38UCSC Ensembl
chr2:28485908..28489880hg19UCSC Ensembl
Innerchr2:28485938..28489850hg19UCSC Ensembl
Outerchr2:28485878..28489910hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383973
hg193973
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590156
Supporting Variants
SamplesHG00365
Known GenesBRE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10437151
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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