A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630985



Internal ID7017799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122906422..122911427hg38UCSC Ensembl
Innerchr12:122906922..122910927hg38UCSC Ensembl
Outerchr12:122905422..122912427hg38UCSC Ensembl
chr12:123390969..123395974hg19UCSC Ensembl
Innerchr12:123391469..123395474hg19UCSC Ensembl
Outerchr12:123389969..123396974hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385006
hg195006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14621570, essv14621571, essv14621572
SamplesNA19917, NA18950, HG03615
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630985
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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