A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594339



Internal ID6634615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218416309..218429173hg38UCSC Ensembl
chr2:219281032..219293896hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3812865
hg1912865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10850509
SamplesNA18620
Known GenesVIL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594339
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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