A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839845



Internal ID10236116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:15031001..15031555hg38UCSC Ensembl
Outerchr21:16403322..16403876hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723186
Supporting Variants
SamplesSSM083
Known GenesNRIP1
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)essv6839845
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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