A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629518



Internal ID7016339
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14483107, essv14483108, essv14483109
SamplesHG00120, HG00188, HG04099
Known GenesKRT6B, KRT6C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629518
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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