A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723614



Internal ID9957914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43668788..43669513hg38UCSC Ensembl
Outerchr21:45088669..45089394hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917345, essv6877625
SamplesSSM092, SSM016
Known GenesRRP1B
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)esv2723614
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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