A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745538



Internal ID10326508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10589060..10589143hg38UCSC Ensembl
Outerchr12:10741659..10741742hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959224, essv6965741, essv6862339, essv6851132, essv6867118
SamplesSSM027, SSM088, SSM026, SSM089, SSM086
Known GenesKLRAP1
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)esv2745538
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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