A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10501128



Internal ID1372192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50495035..50550302hg38UCSC Ensembl
Innerchr2:50495035..50550302hg38UCSC Ensembl
Outerchr2:50494535..50550802hg38UCSC Ensembl
chr2:50722173..50777440hg19UCSC Ensembl
Innerchr2:50722173..50777440hg19UCSC Ensembl
Outerchr2:50721673..50777940hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3855268
hg1955268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590728
Supporting Variants
SamplesHG01242
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10501128
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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