A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590731



Internal ID6978059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50626296..50678220hg38UCSC Ensembl
Innerchr2:50626296..50678220hg38UCSC Ensembl
Outerchr2:50625796..50678720hg38UCSC Ensembl
chr2:50853434..50905358hg19UCSC Ensembl
Innerchr2:50853434..50905358hg19UCSC Ensembl
Outerchr2:50852934..50905858hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3851925
hg1951925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10501132, essv10501133
SamplesHG01242, NA20867
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590731
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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