A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14619005



Internal ID4620821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121161280..121164696hg38UCSC Ensembl
Innerchr12:121161780..121164196hg38UCSC Ensembl
Outerchr12:121160280..121165696hg38UCSC Ensembl
chr12:121599083..121602499hg19UCSC Ensembl
Innerchr12:121599583..121601999hg19UCSC Ensembl
Outerchr12:121598083..121603499hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383417
hg193417
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630940
Supporting Variants
SamplesHG03757
Known GenesP2RX7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14619005
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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