A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628403



Internal ID7015227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6263943..6264887hg38UCSC Ensembl
Innerchr12:6263991..6264839hg38UCSC Ensembl
Outerchr12:6263895..6264935hg38UCSC Ensembl
chr12:6373109..6374053hg19UCSC Ensembl
Innerchr12:6373157..6374005hg19UCSC Ensembl
Outerchr12:6373061..6374101hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14345928
SamplesHG03126
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer