A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382704



Internal ID15229675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32601499..32601518hg38UCSC Ensembl
Innerchr12:32601495..32601522hg38UCSC Ensembl
Outerchr12:32601476..32601541hg38UCSC Ensembl
chr12:32754433..32754452hg19UCSC Ensembl
Innerchr12:32754429..32754456hg19UCSC Ensembl
Outerchr12:32754410..32754475hg19UCSC Ensembl
chr12:32645700..32645719hg18UCSC Ensembl
Innerchr12:32645723..32645696hg18UCSC Ensembl
Outerchr12:32645677..32645742hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9656758
SamplesNA19143
Known GenesFGD4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382704
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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