A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725201



Internal ID9959505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42819210..42819665hg38UCSC Ensembl
Outerchr3:42860702..42861157hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847900, essv6938217, essv6722526, essv6848665, essv6730129, essv6693383, essv6669856, essv6955700
SamplesSSM045, SSM011, SSM047, SSM026, SSM031, SSM086, SSM037, SSM022
Known GenesACKR2
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)esv2725201
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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