A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692638



Internal ID10105976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14638632..14643446hg38UCSC Ensembl
Outerchr21:16010953..16015767hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg384815
hg194815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723181
Supporting Variants
SamplesSSM036
Known GenesLOC388813
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)essv6692638
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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