A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628956



Internal ID7015778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27969159..27972559hg38UCSC Ensembl
Innerchr12:27969159..27972559hg38UCSC Ensembl
Outerchr12:27968659..27973059hg38UCSC Ensembl
chr12:28122092..28125492hg19UCSC Ensembl
Innerchr12:28122092..28125492hg19UCSC Ensembl
Outerchr12:28121592..28125992hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14419859, essv14419862, essv14419867, essv14419866, essv14419864, essv14419870, essv14419861, essv14419857, essv14419860, essv14419868, essv14419865, essv14419856, essv14419858, essv14419855, essv14419869, essv14419863
SamplesHG02496, NA18545, NA20298, NA19443, HG02285, HG02105, HG01277, NA19036, NA20412, NA18640, NA18939, NA19752, NA19741, NA18957, NA19146, NA19214
Known GenesPTHLH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628956
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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