A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730378



Internal ID10314014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80693202..80693407hg38UCSC Ensembl
Outerchr5:79989021..79989226hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv945e201
Supporting Variantsessv6951674, essv6786182, essv6848781, essv6918539, essv6907299, essv6767350, essv6670802, essv6911109, essv6683823, essv6903544, essv6687073, essv6690241, essv6723027, essv6814137, essv6930249, essv6884032, essv6934480, essv6938793, essv6943132, essv6956650, essv6719216, essv6860550, essv6817935
SamplesSSM036, SSM045, SSM064, SSM013, SSM088, SSM023, SSM021, SSM069, SSM026, SSM017, SSM035, SSM031, SSM044, SSM014, SSM086, SSM020, SSM015, SSM078, SSM077, SSM022, SSM095, SSM025, SSM034
Known GenesMSH3
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)esv2730378
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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