A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723147



Internal ID10306783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10746048..10746331hg38UCSC Ensembl
Outerchr21:10766126..10766409hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801507, essv6824839, essv6928952, essv6950406, essv6961303, essv6859024, essv6836048
SamplesSSM024, SSM079, SSM087, SSM026, SSM019, SSM072, SSM082
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)esv2723147
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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