A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747768



Internal ID18375328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178634..32182848hg38UCSC Ensembl
Outerchr12:32177589..32183114hg38UCSC Ensembl
Innerchr12:32331568..32335782hg19UCSC Ensembl
Outerchr12:32330523..32336048hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385526
hg195526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549021
Supporting Variants
Samples
Known GenesBICD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747768
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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