A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748461



Internal ID18722707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103899634..103899938hg38UCSC Ensembl
Outerchr12:103899571..103899988hg38UCSC Ensembl
Innerchr12:104293412..104293716hg19UCSC Ensembl
Outerchr12:104293349..104293766hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549714
Supporting Variants
Samples
Known GenesGNN
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748461
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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