A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14577992



Internal ID3057897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95901290..95912117hg38UCSC Ensembl
chr12:96295068..96305895hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3810828
hg1910828
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630442
Supporting Variants
SamplesHG02687
Known GenesCCDC38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14577992
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