A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728049



Internal ID9962361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101090745..101091292hg38UCSC Ensembl
Outerchr4:102011902..102012449hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683595, essv6774223, essv6704608, essv6956237, essv6676079, essv6745580, essv6930008, essv6790064, essv6922639, essv6910893, essv6962945, essv6973947
SamplesSSM027, SSM055, SSM040, SSM020, SSM032, SSM066, SSM029, SSM034, SSM015, SSM026, SSM018, SSM070
Known GenesPPP3CA
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)esv2728049
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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