A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439749



Internal ID15286702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670582..44670596hg38UCSC Ensembl
Innerchr12:44670573..44670605hg38UCSC Ensembl
Outerchr12:44670559..44670619hg38UCSC Ensembl
chr12:45064365..45064379hg19UCSC Ensembl
Innerchr12:45064356..45064388hg19UCSC Ensembl
Outerchr12:45064342..45064402hg19UCSC Ensembl
chr12:43350632..43350646hg18UCSC Ensembl
Innerchr12:43350655..43350623hg18UCSC Ensembl
Outerchr12:43350609..43350669hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8957205, essv8957196, essv8957216, essv8957211, essv8957201, essv8957215, essv8957193, essv8957199, essv8957217, essv8957191, essv8957202, essv8957200, essv8957195, essv8957197, essv8957206, essv8957198, essv8957221, essv8957194, essv8957210, essv8957222, essv8957212, essv8957204, essv8957220, essv8957223, essv8957188, essv8957218, essv8957208, essv8957190, essv8957186, essv8957213, essv8957187, essv8957219, essv8957189, essv8957207, essv8957209
SamplesNA18980, NA18507, NA11920, NA12004, NA18504, NA18870, NA18526, NA18563, NA19005, NA18942, NA18582, NA12287, NA19138, NA18949, NA12156, NA12044, NA12828, NA18638, NA12489, NA12003, NA18579, NA18537, NA18499, NA18856, NA18532, NA19099, NA18555, NA12043, NA12763, NA06986, NA18501, NA18609, NA19116, NA12154, NA12776
Known GenesNELL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439749
Frequency
Sample Size185
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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