A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10501130



Internal ID1372196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50561047..50607938hg38UCSC Ensembl
Innerchr2:50561047..50607938hg38UCSC Ensembl
Outerchr2:50560547..50608438hg38UCSC Ensembl
chr2:50788185..50835076hg19UCSC Ensembl
Innerchr2:50788185..50835076hg19UCSC Ensembl
Outerchr2:50787685..50835576hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3846892
hg1946892
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590730
Supporting Variants
SamplesHG01242
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10501130
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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