A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675035



Internal ID10088628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8764835..9330976hg38UCSC Ensembl
Outerchr21:9653668..10169809hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38566142
hg19516142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723012
Supporting Variants
SamplesSSM031
Known GenesMIR3648, MIR3687, TEKT4P2
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)essv6675035
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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