A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7762830



Internal ID12747820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23867033..23867034hg38UCSC Ensembl
Innerchr12:23866996..23867071hg38UCSC Ensembl
Outerchr12:23866995..23867072hg38UCSC Ensembl
chr12:24019967..24019968hg19UCSC Ensembl
Innerchr12:24019930..24020005hg19UCSC Ensembl
Outerchr12:24019929..24020006hg19UCSC Ensembl
chr12:23911234..23911235hg18UCSC Ensembl
Innerchr12:23911272..23911197hg18UCSC Ensembl
Outerchr12:23911196..23911273hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38185
hg19185
hg18185
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305135
Supporting Variants
SamplesNA10847
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7762830
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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