A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723200



Internal ID9957500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17084947..17085491hg38UCSC Ensembl
Outerchr21:18457265..18457809hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783576, essv6747700, essv6925577, essv6949185, essv6888918, essv6961320, essv6941654, essv6679037
SamplesSSM008, SSM018, SSM096, SSM026, SSM032, SSM003, SSM022, SSM055
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)esv2723200
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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