A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3437136



Internal ID14937403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79916011..79916023hg38UCSC Ensembl
Innerchr12:79916002..79916032hg38UCSC Ensembl
Outerchr12:79915990..79916041hg38UCSC Ensembl
chr12:80309791..80309803hg19UCSC Ensembl
Innerchr12:80309782..80309812hg19UCSC Ensembl
Outerchr12:80309770..80309821hg19UCSC Ensembl
chr12:78833922..78833934hg18UCSC Ensembl
Innerchr12:78833943..78833913hg18UCSC Ensembl
Outerchr12:78833901..78833952hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958473, essv8958467, essv8958457, essv8958469, essv8958474, essv8958455, essv8958468, essv8958463, essv8958471, essv8958464, essv8958454, essv8958461, essv8958453, essv8958476, essv8958458, essv8958452, essv8958466, essv8958472, essv8958460, essv8958475, essv8958456, essv8958462, essv8958465
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
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3437136
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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