A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10571514



Internal ID573330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86764344..86832450hg38UCSC Ensembl
chr2:86991467..87059573hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3868107
hg1968107
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591559
Supporting Variants
SamplesNA12287
Known GenesCD8A, CD8B, RMND5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10571514
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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