A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746104



Internal ID10327074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78803675..78803996hg38UCSC Ensembl
Outerchr12:79197455..79197776hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv192e201
Supporting Variantsessv6695584, essv6959326, essv6812255, essv6827742, essv6879530, essv6888030, essv6866065, essv6709536, essv6891320, essv6944997, essv6702491, essv6904946, essv6787797, essv6965833, essv6862439, essv6851250
SamplesSSM027, SSM011, SSM097, SSM039, SSM013, SSM093, SSM088, SSM041, SSM023, SSM069, SSM096, SSM026, SSM086, SSM080, SSM037, SSM076
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)esv2746104
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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