A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14374172



Internal ID4375988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10416228..10446407hg38UCSC Ensembl
Innerchr12:10416728..10445907hg38UCSC Ensembl
Outerchr12:10415228..10447407hg38UCSC Ensembl
chr12:10568827..10599006hg19UCSC Ensembl
Innerchr12:10569327..10598506hg19UCSC Ensembl
Outerchr12:10567827..10600006hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3830180
hg1930180
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628535
Supporting Variants
SamplesHG00556
Known GenesKLRC1, KLRC2, KLRC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14374172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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