A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748046



Internal ID10329016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110907085..110907311hg38UCSC Ensembl
Outerchr13:111559432..111559658hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851555, essv6862646, essv6959633, essv6891463, essv6673508, essv6977632, essv6966154, essv6909099, essv6857559, essv6819977, essv6867436
SamplesSSM027, SSM087, SSM097, SSM088, SSM029, SSM026, SSM089, SSM031, SSM014, SSM086, SSM078
Known GenesANKRD10
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)esv2748046
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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