A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730774



Internal ID10314410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131468375..131469057hg38UCSC Ensembl
Outerchr5:130804068..130804750hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723073, essv6730723, essv6814179, essv6963443, essv6726980, essv6782030, essv6939817, essv6841078, essv6748600, essv6918580, essv6914942, essv6757269, essv6854119, essv6743004, essv6865392, essv6764881, essv6951714, essv6974488, essv6759882, essv6667453, essv6938833, essv6751451, essv6854980, essv6754374
SamplesSSM059, SSM027, SSM045, SSM046, SSM011, SSM087, SSM057, SSM058, SSM084, SSM047, SSM061, SSM029, SSM089, SSM017, SSM001, SSM068, SSM016, SSM053, SSM077, SSM022, SSM025, SSM056, SSM030, SSM063
Known GenesRAPGEF6
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)esv2730774
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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