A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592680



Internal ID6632963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140158096..140274166hg38UCSC Ensembl
chr2:140915665..141031735hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38116071
hg19116071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10690261
SamplesHG02084
Known GenesLRP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592680
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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