A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717131



Internal ID10300767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:55585910..55586365hg38UCSC Ensembl
Outerchr18:53253141..53253596hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv455e201
Supporting Variantsessv6960647, essv6913444, essv6858437, essv6909621, essv6703312, essv6678641, essv6921082, essv6674452, essv6852476, essv6801101
SamplesSSM087, SSM039, SSM026, SSM017, SSM032, SSM031, SSM014, SSM086, SSM072, SSM015
Known GenesTCF4
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)esv2717131
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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