A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435085



Internal ID15282039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80768924..80768930hg38UCSC Ensembl
Innerchr12:80768909..80768945hg38UCSC Ensembl
Outerchr12:80768903..80768951hg38UCSC Ensembl
chr12:81162703..81162709hg19UCSC Ensembl
Innerchr12:81162688..81162724hg19UCSC Ensembl
Outerchr12:81162682..81162730hg19UCSC Ensembl
chr12:79686834..79686840hg18UCSC Ensembl
Innerchr12:79686855..79686819hg18UCSC Ensembl
Outerchr12:79686813..79686861hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865602
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435085
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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