A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720778



Internal ID10304414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:131086720..131087093hg38UCSC Ensembl
Outerchr2:131844293..131844666hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942238, essv6914308, essv6813497, essv6880700, essv6704193, essv6973046, essv6689626, essv6726225, essv6953350, essv6672099
SamplesSSM036, SSM046, SSM023, SSM029, SSM094, SSM040, SSM016, SSM005, SSM077, SSM004
Known GenesFAM168B
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)esv2720778
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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