A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738082



Internal ID9972421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144611931..144612980hg38UCSC Ensembl
Outerchr8:145837316..145838365hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381050
hg191050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760594, essv6819061, essv6866474, essv6964909, essv6958334, essv6850345, essv6850344, essv6757881, essv6755123, essv6672282, essv6768103, essv6861740, essv6731589, essv6672281, essv6866473, essv6763052, essv6976154, essv6831198, essv6746448, essv6861741, essv6964910, essv6734443, essv6904426
SamplesSSM010, SSM007, SSM027, SSM013, SSM086, SSM055, SSM061, SSM078, SSM088, SSM089, SSM064, SSM031, SSM062, SSM029, SSM047, SSM026, SSM058, SSM059
Known GenesARHGAP39
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)esv2738082
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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