A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723402



Internal ID9957702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37704055..37704577hg38UCSC Ensembl
Outerchr21:39076357..39076879hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666805, essv6876019, essv6773343, essv6961354, essv6917328, essv6689185
SamplesSSM065, SSM035, SSM016, SSM011, SSM029, SSM026
Known GenesKCNJ6
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)esv2723402
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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