A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723101



Internal ID10306737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10788662..10790147hg38UCSC Ensembl
Outerchr21:10722310..10723795hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381486
hg191486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv690e201
Supporting Variantsessv6892207, essv6933156, essv6905998, essv6710484, essv6901512, essv6868612, essv6961305, essv6885892, essv6725704, essv6696885, essv6909926, essv6813082, essv6789003
SamplesSSM100, SSM045, SSM097, SSM013, SSM041, SSM069, SSM026, SSM089, SSM014, SSM020, SSM037, SSM076, SSM095
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)esv2723101
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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