A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10501134



Internal ID6755136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50626444..50853772hg38UCSC Ensembl
Innerchr2:50626514..50853703hg38UCSC Ensembl
Outerchr2:50626375..50853842hg38UCSC Ensembl
chr2:50853582..51080910hg19UCSC Ensembl
Innerchr2:50853652..51080841hg19UCSC Ensembl
Outerchr2:50853513..51080980hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38227329
hg19227329
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590732
Supporting Variants
SamplesNA20867
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10501134
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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