A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618983



Internal ID4620799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121066927..121142375hg38UCSC Ensembl
chr12:121504730..121580178hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3875449
hg1975449
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630936
Supporting Variants
SamplesNA18625
Known GenesP2RX7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618983
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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