A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549223



Internal ID18403613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52692560..52693672hg38UCSC Ensembl
Outerchr12:52692499..52693946hg38UCSC Ensembl
Innerchr12:53086344..53087456hg19UCSC Ensembl
Outerchr12:53086283..53087730hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747970
Samples
Known GenesKRT77
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549223
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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