A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10571513



Internal ID573329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86745573..86951144hg38UCSC Ensembl
chr2:86972696..87178267hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38205572
hg19205572
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591558
Supporting Variants
SamplesNA12287
Known GenesANAPC1P1, CD8A, CD8B, RGPD1, RGPD2, RMND5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10571513
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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