A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10875181



Internal ID2807702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230662160..230665635hg38UCSC Ensembl
Innerchr2:230662160..230665635hg38UCSC Ensembl
Outerchr2:230662073..230665819hg38UCSC Ensembl
chr2:231526875..231530350hg19UCSC Ensembl
Innerchr2:231526875..231530350hg19UCSC Ensembl
Outerchr2:231526788..231530534hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383476
hg193476
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594607
Supporting Variants
SamplesHG02479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10875181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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