A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305040



Internal ID14805302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26805727..26805728hg38UCSC Ensembl
Innerchr12:26805700..26805755hg38UCSC Ensembl
Outerchr12:26805699..26805756hg38UCSC Ensembl
chr12:26958660..26958661hg19UCSC Ensembl
Innerchr12:26958633..26958688hg19UCSC Ensembl
Outerchr12:26958632..26958689hg19UCSC Ensembl
chr12:26849927..26849928hg18UCSC Ensembl
Innerchr12:26849955..26849900hg18UCSC Ensembl
Outerchr12:26849899..26849956hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38133
hg19133
hg18133
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7743152, essv7745292, essv7758780, essv7748507, essv7745612, essv7750458, essv7753579, essv7760268, essv7757680, essv7741940, essv7759555, essv7745192, essv7750340, essv7749821, essv7756527, essv7754396, essv7758029, essv7756957, essv7757416, essv7760074, essv7743743, essv7757150, essv7760597, essv7748165, essv7742032, essv7752381, essv7746806, essv7759325, essv7748981, essv7762584, essv7757302, essv7744285, essv7761068, essv7761549, essv7760700, essv7742663, essv7756685, essv7750016, essv7750992, essv7751190, essv7749295, essv7746166, essv7754365, essv7746233, essv7760892
SamplesNA18964, NA12154, NA12750, NA18561, NA18501, NA19093, NA18526, NA18550, NA18570, NA18603, NA11931, NA19257, NA18965, NA19147, NA19239, NA18576, NA18856, NA12761, NA18638, NA18959, NA18609, NA18973, NA18916, NA18593, NA12144, NA07346, NA19129, NA18572, NA19238, NA19005, NA18510, NA18558, NA18564, NA18579, NA12891, NA10851, NA19138, NA19116, NA19099, NA12878, NA12003, NA18944, NA19240, NA12717, NA18555
Known GenesITPR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305040
Frequency
Sample Size185
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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