A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14374433



Internal ID4376249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10421097..10436705hg38UCSC Ensembl
Innerchr12:10421597..10436205hg38UCSC Ensembl
Outerchr12:10420097..10437705hg38UCSC Ensembl
chr12:10573696..10589304hg19UCSC Ensembl
Innerchr12:10574196..10588804hg19UCSC Ensembl
Outerchr12:10572696..10590304hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815609
hg1915609
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628537
Supporting Variants
SamplesHG03126
Known GenesKLRC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14374433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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