A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738195



Internal ID13028214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53753862..53753863hg38UCSC Ensembl
Outerchr12:53753706..53754020hg38UCSC Ensembl
Innerchr12:54147646..54147647hg19UCSC Ensembl
Outerchr12:54147490..54147804hg19UCSC Ensembl
Innerchr12:52433914..52433913hg18UCSC Ensembl
Outerchr12:52433757..52434071hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38315
hg19315
hg18315
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302703
Supporting Variants
SamplesNA07037
Known GenesCISTR-ACT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738195
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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