A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722964



Internal ID9957264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63723509..63723652hg38UCSC Ensembl
Outerchr20:62354861..62355004hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892030, essv6689013, essv6909739, essv6852715, essv6888716, essv6828641
SamplesSSM097, SSM096, SSM035, SSM014, SSM086, SSM080
Known GenesZGPAT
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)esv2722964
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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