A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590722



Internal ID6978050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50269904..50288895hg38UCSC Ensembl
chr2:50497042..50516033hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3818992
hg1918992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10498943, essv10498942
SamplesNA19308, HG01917
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590722
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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