A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731598



Internal ID10315234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:12663953..12664299hg38UCSC Ensembl
Outerchr6:12664185..12664531hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974647, essv6878538, essv6818110, essv6676459, essv6860721, essv6848997, essv6893422, essv6907448, essv6719322, essv6854743, essv6890128, essv6865489, essv6683927
SamplesSSM011, SSM097, SSM093, SSM088, SSM029, SSM089, SSM032, SSM044, SSM014, SSM086, SSM078, SSM034, SSM098
Known Genes
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)esv2731598
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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