A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734084



Internal ID10317720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:24538458..24538619hg38UCSC Ensembl
Outerchr10:24827387..24827548hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791506, essv6948723, essv6944540
SamplesSSM024, SSM023, SSM070
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)esv2734084
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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