A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723859



Internal ID10307495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46033597..46034296hg38UCSC Ensembl
Outerchr21:47453511..47454210hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883217, essv6880391, essv6877637, essv6954634, essv6853146, essv6843840, essv6859122, essv6925635, essv6913939, essv6689212
SamplesSSM087, SSM093, SSM092, SSM084, SSM018, SSM035, SSM094, SSM086, SSM015, SSM025
Known Genes
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)esv2723859
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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