A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722510



Internal ID10306146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51395435..51395917hg38UCSC Ensembl
Outerchr20:50011972..50012454hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913555, essv6792830, essv6784550, essv6696558
SamplesSSM068, SSM015, SSM037, SSM070
Known GenesNFATC2
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)esv2722510
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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