A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6892233



Internal ID10286492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40214951..40215253hg38UCSC Ensembl
Outerchr21:41586878..41587180hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723457
Supporting Variants
SamplesSSM097
Known GenesDSCAM
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)essv6892233
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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