A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731194



Internal ID9965511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177467804..177468231hg38UCSC Ensembl
Outerchr5:176894805..176895232hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv963e201
Supporting Variantsessv6798713, essv6700926, essv6855052, essv6770673, essv6951750, essv6918620, essv6708306, essv6947682, essv6723113, essv6922935, essv6830061, essv6670947, essv6930332, essv6938869, essv6730761, essv6848929, essv6841126, essv6963520
SamplesSSM027, SSM024, SSM045, SSM065, SSM087, SSM039, SSM041, SSM084, SSM047, SSM018, SSM017, SSM031, SSM086, SSM081, SSM072, SSM020, SSM022, SSM025
Known GenesDBN1
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)esv2731194
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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