A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630877



Internal ID7017691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117826187..117844038hg38UCSC Ensembl
Innerchr12:117826206..117844020hg38UCSC Ensembl
Outerchr12:117826169..117844057hg38UCSC Ensembl
chr12:118263992..118281843hg19UCSC Ensembl
Innerchr12:118264011..118281825hg19UCSC Ensembl
Outerchr12:118263974..118281862hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3817852
hg1917852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14615315
SamplesHG03779
Known GenesKSR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630877
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