A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429101



Internal ID14929371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20853913..20853932hg38UCSC Ensembl
Innerchr12:20853909..20853936hg38UCSC Ensembl
Outerchr12:20853890..20853955hg38UCSC Ensembl
chr12:21006847..21006866hg19UCSC Ensembl
Innerchr12:21006843..21006870hg19UCSC Ensembl
Outerchr12:21006824..21006889hg19UCSC Ensembl
chr12:20898114..20898133hg18UCSC Ensembl
Innerchr12:20898137..20898110hg18UCSC Ensembl
Outerchr12:20898091..20898156hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9655836, essv9655847
SamplesNA18969, NA19141
Known GenesSLCO1B3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429101
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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