A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14626488



Internal ID4628304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126655522..126828089hg38UCSC Ensembl
chr12:127140068..127312635hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38172568
hg19172568
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631085
Supporting Variants
SamplesHG03916
Known GenesLINC00943, LINC00944
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14626488
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