A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723541



Internal ID9957841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42283456..42283781hg38UCSC Ensembl
Outerchr21:43703566..43703891hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821095, essv6892239, essv6789037, essv6718071, essv6828918, essv6780762, essv6954603, essv6686095, essv6921628, essv6906046, essv6941685
SamplesSSM022, SSM013, SSM078, SSM043, SSM025, SSM067, SSM097, SSM017, SSM069, SSM034, SSM080
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)esv2723541
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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