A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745892



Internal ID3293844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52469059..52491401hg38UCSC Ensembl
Outerchr12:52862843..52885185hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3822343
hg1922343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779481, essv6867189, essv6681601, essv6953247, essv6912621
SamplesSSM033, SSM089, SSM025, SSM067, SSM015
Known GenesKRT6A, KRT6C
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
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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