A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728158



Internal ID10311794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113064796..113065159hg38UCSC Ensembl
Outerchr4:113985952..113986315hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924307, essv6947386, essv6837035, essv6956260, essv6670406, essv6957163, essv6802251, essv6956261, essv6708032, essv6730466, essv6790079, essv6683608, essv6851842, essv6722841, essv6700573, essv6798403, essv6930016, essv6690050, essv6869383, essv6962970, essv6840833, essv6854559
SamplesSSM036, SSM083, SSM027, SSM024, SSM045, SSM011, SSM087, SSM039, SSM073, SSM041, SSM084, SSM090, SSM047, SSM026, SSM003, SSM031, SSM072, SSM020, SSM070, SSM034, SSM004
Known GenesANK2
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)esv2728158
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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