A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842415



Internal ID9894969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10425695..10441233hg38UCSC Ensembl
Outerchr12:10578294..10593832hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815539
hg1915539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745535
Supporting Variants
SamplesSSM084
Known GenesKLRC2
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)essv6842415
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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