A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14627209



Internal ID4396510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127332858..127525302hg38UCSC Ensembl
chr12:127817403..128009847hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38192445
hg19192445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631107
Supporting Variants
SamplesHG03916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14627209
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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