A curated catalogue of human genomic structural variation




Variant Details

Variant: esv271083



Internal ID1793499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21006874..21007136hg19UCSC Ensembl
Outerchr12:21006840..21007170hg19UCSC Ensembl
Innerchr12:20898141..20898403hg18UCSC Ensembl
Outerchr12:20898107..20898437hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv2531816, essv2524070, essv2532796, essv2561662, essv2530188, essv2564883, essv2574709, essv2549497, essv2555620, essv2529450, essv2560762, essv2570102, essv2538472, essv2573292, essv2567214, essv2536847, essv2564448, essv2527138, essv2562427, essv2559843, essv2563756, essv2543025, essv2531196, essv2578114, essv2534917, essv2552832
SamplesNA18561, NA18523, NA19093, NA18550, NA18570, NA18603, NA18969, NA18517, NA18947, NA18573, NA18542, NA19108, NA18576, NA18593, NA12751, NA12006, NA19129, NA18522, NA18558, NA18564, NA18945, NA19141, NA18940, NA19138, NA18909, NA19116
Known GenesSLCO1B3
Method
AnalysisAnalysis structural variant merging of all supporting structural variant calls generated by type of computational approach: read pair mapping and split read alignment.
Platform454 GS FLX + Illumina Genome Analyzer II
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv271083
Frequency
Sample Size157
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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