A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10501132



Internal ID1372184
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590731
Supporting Variants
SamplesHG01242
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10501132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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