A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738014



Internal ID10321650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143449803..143452645hg38UCSC Ensembl
Outerchr8:144531973..144534815hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382843
hg192843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905174, essv6831142
SamplesSSM002, SSM010
Known GenesZC3H3
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)esv2738014
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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