A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7840256



Internal ID13621968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044587..105044588hg38UCSC Ensembl
Innerchr12:105044570..105044605hg38UCSC Ensembl
Outerchr12:105044569..105044606hg38UCSC Ensembl
chr12:105438365..105438366hg19UCSC Ensembl
Innerchr12:105438348..105438383hg19UCSC Ensembl
Outerchr12:105438347..105438384hg19UCSC Ensembl
chr12:103962495..103962496hg18UCSC Ensembl
Innerchr12:103962513..103962478hg18UCSC Ensembl
Outerchr12:103962477..103962514hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309843
Supporting Variants
SamplesNA12878
Known GenesALDH1L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7840256
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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