A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10498943



Internal ID5881221
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590722
Supporting Variants
SamplesNA19308
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10498943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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