A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10498846



Internal ID5233015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49955105..49965110hg38UCSC Ensembl
Innerchr2:49955605..49964610hg38UCSC Ensembl
Outerchr2:49954105..49966110hg38UCSC Ensembl
chr2:50182243..50192248hg19UCSC Ensembl
Innerchr2:50182743..50191748hg19UCSC Ensembl
Outerchr2:50181243..50193248hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3810006
hg1910006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590711
Supporting Variants
SamplesNA18627
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10498846
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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