A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304355



Internal ID14804617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79916007..79916008hg38UCSC Ensembl
Innerchr12:79915990..79916025hg38UCSC Ensembl
Outerchr12:79915989..79916026hg38UCSC Ensembl
chr12:80309787..80309788hg19UCSC Ensembl
Innerchr12:80309770..80309805hg19UCSC Ensembl
Outerchr12:80309769..80309806hg19UCSC Ensembl
chr12:78833918..78833919hg18UCSC Ensembl
Innerchr12:78833936..78833901hg18UCSC Ensembl
Outerchr12:78833900..78833937hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7804345, essv7770242, essv7807955, essv7793617, essv7785187, essv7781340, essv7783208, essv7775017, essv7785656, essv7817993, essv7793077, essv7829546, essv7807683, essv7779684, essv7814513, essv7803376, essv7796767, essv7818920, essv7800083, essv7796055, essv7795395, essv7810337, essv7827501
SamplesNA11881, NA18605, NA19093, NA18550, NA18511, NA18573, NA18542, NA18489, NA07051, NA18965, NA12044, NA18943, NA18566, NA18856, NA18638, NA18609, NA19129, NA18564, NA18552, NA18907, NA18909, NA18944, NA18532
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304355
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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