A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688729



Internal ID15046415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56251501..56254599hg38UCSC Ensembl
Innerchr12:56252501..56253599hg38UCSC Ensembl
Outerchr12:56250501..56255599hg38UCSC Ensembl
chr12:56645285..56648383hg19UCSC Ensembl
Innerchr12:56646285..56647383hg19UCSC Ensembl
Outerchr12:56644285..56649383hg19UCSC Ensembl
chr12:54931552..54934650hg18UCSC Ensembl
Innerchr12:54932552..54933650hg18UCSC Ensembl
Outerchr12:54930552..54935650hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381217
Supporting Variants
SamplesNA19239
Known GenesANKRD52
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688729
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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