A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723137



Internal ID10306773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10746916..10748234hg38UCSC Ensembl
Outerchr21:10764223..10765541hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381319
hg191319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696e201
Supporting Variantsessv6810260, essv6666752, essv6813086, essv6859023, essv6875808, essv6689169, essv6675046, essv6793145, essv6675045, essv6807281, essv6925563, essv6888908, essv6679028
SamplesSSM075, SSM011, SSM087, SSM074, SSM018, SSM029, SSM096, SSM035, SSM032, SSM031, SSM076, SSM070
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)esv2723137
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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