A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604152



Internal ID5723826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110883303..110884941hg38UCSC Ensembl
Innerchr12:110883353..110884891hg38UCSC Ensembl
Outerchr12:110883199..110885045hg38UCSC Ensembl
chr12:111321107..111322745hg19UCSC Ensembl
Innerchr12:111321157..111322695hg19UCSC Ensembl
Outerchr12:111321003..111322849hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381639
hg191639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630745
Supporting Variants
SamplesNA19099
Known GenesCCDC63
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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