A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483108



Internal ID523300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52450755..52475085hg38UCSC Ensembl
Innerchr12:52450755..52475085hg38UCSC Ensembl
Outerchr12:52450255..52475585hg38UCSC Ensembl
chr12:52844539..52868869hg19UCSC Ensembl
Innerchr12:52844539..52868869hg19UCSC Ensembl
Outerchr12:52844039..52869369hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3824331
hg1924331
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629518
Supporting Variants
SamplesHG00188
Known GenesKRT6B, KRT6C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483108
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