A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745892



Internal ID5056624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52862843..52885185hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6779481, essv6867189, essv6681601, essv6953247, essv6912621
SamplesSSM033, SSM089, SSM025, SSM067, SSM015
Known GenesKRT6A, KRT6C
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745892
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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