A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724140



Internal ID9958441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226978561..226978699hg38UCSC Ensembl
Outerchr1:227166262..227166400hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955029, essv6816808
SamplesSSM078, SSM026
Known GenesADCK3
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)esv2724140
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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