A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630429



Internal ID7017247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95194607..95196014hg38UCSC Ensembl
Innerchr12:95194607..95196014hg38UCSC Ensembl
Outerchr12:95194545..95196120hg38UCSC Ensembl
chr12:95588383..95589790hg19UCSC Ensembl
Innerchr12:95588383..95589790hg19UCSC Ensembl
Outerchr12:95588321..95589896hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381408
hg191408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14573939
SamplesNA20804
Known GenesFGD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630429
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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