A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549214



Internal ID18403604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52047971..52048364hg38UCSC Ensembl
Outerchr12:52047946..52048411hg38UCSC Ensembl
Innerchr12:52441755..52442148hg19UCSC Ensembl
Outerchr12:52441730..52442195hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747961
Samples
Known GenesNR4A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549214
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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