A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630989



Internal ID7017803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123518860..123520480hg38UCSC Ensembl
Innerchr12:123518885..123520456hg38UCSC Ensembl
Outerchr12:123518836..123520505hg38UCSC Ensembl
chr12:124003407..124005027hg19UCSC Ensembl
Innerchr12:124003432..124005003hg19UCSC Ensembl
Outerchr12:124003383..124005052hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381621
hg191621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14621580, essv14621581
SamplesHG00118, HG00631
Known GenesRILPL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630989
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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