A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724084



Internal ID9958385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226976155..226976343hg38UCSC Ensembl
Outerchr1:227163856..227164044hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675384, essv6895986, essv6847307, essv6720198, essv6859410, essv6886122, essv6937853, essv6810471, essv6836354, essv6898759, essv6832748, essv6697122
SamplesSSM100, SSM083, SSM038, SSM088, SSM096, SSM032, SSM086, SSM082, SSM007, SSM076, SSM022, SSM099
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)esv2724084
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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