A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723411



Internal ID9957711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37860814..37861007hg38UCSC Ensembl
Outerchr21:39233116..39233309hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836069, essv6682752, essv6780747, essv6853093, essv6933197
SamplesSSM082, SSM086, SSM033, SSM020, SSM067
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)esv2723411
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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