A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944540



Internal ID10053147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:24538477..24538610hg38UCSC Ensembl
Outerchr10:24827406..24827539hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734084
Supporting Variants
SamplesSSM023
Known GenesKIAA1217
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)essv6944540
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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