A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6917347



Internal ID9678441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44335924..44336091hg38UCSC Ensembl
Outerchr21:45755807..45755974hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723643, esv2723638, esv2723642
Supporting Variants
SamplesSSM016
Known GenesC21orf2
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)essv6917347
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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