A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710485



Internal ID10120862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10751967..10755706hg38UCSC Ensembl
Outerchr21:10756751..10760490hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg383740
hg193740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723123, esv2723112, esv2723108, esv2723094, esv2723119
Supporting Variants
SamplesSSM041
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)essv6710485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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