A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723902



Internal ID9958202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46183517..46184009hg38UCSC Ensembl
Outerchr21:47603431..47603923hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883218, essv6689214, essv6874663, essv6925637, essv6824918, essv6876297, essv6853151, essv6859128, essv6892258, essv6961441
SamplesSSM086, SSM091, SSM035, SSM094, SSM097, SSM011, SSM087, SSM079, SSM026, SSM018
Known GenesSPATC1L
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)esv2723902
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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