A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549931



Internal ID18404321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124311277..124311388hg38UCSC Ensembl
Outerchr12:124311270..124311397hg38UCSC Ensembl
Innerchr12:124795823..124795934hg19UCSC Ensembl
Outerchr12:124795816..124795943hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748678
Samples
Known GenesFAM101A, ZNF664-FAM101A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549931
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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