A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723538



Internal ID9957838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42257492..42258658hg38UCSC Ensembl
Outerchr21:43677602..43678768hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381167
hg191167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843288, essv6797375, essv6868652, essv6961377, essv6859082, essv6853112, essv6917338
SamplesSSM010, SSM086, SSM089, SSM016, SSM001, SSM087, SSM026
Known GenesABCG1
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)esv2723538
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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