A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747434



Internal ID18721680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6801860..6802173hg38UCSC Ensembl
Outerchr12:6801845..6802217hg38UCSC Ensembl
Innerchr12:6911026..6911339hg19UCSC Ensembl
Outerchr12:6911011..6911383hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548687
Supporting Variants
Samples
Known GenesCD4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747434
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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