A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746320



Internal ID10327290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104975267..104979765hg38UCSC Ensembl
Outerchr12:105369045..105373543hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384499
hg194499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709554, essv6749734, essv6827774, essv6823689, essv6673248, essv6695614, essv6920248, essv6882373, essv6900690, essv6761033, essv6809433, essv6687855, essv6867247, essv6741119, essv6835343, essv6806431, essv6897702, essv6912667, essv6931904, essv6909096, essv6851290, essv6728393, essv6939584
SamplesSSM100, SSM075, SSM046, SSM079, SSM074, SSM002, SSM041, SSM061, SSM089, SSM017, SSM094, SSM003, SSM031, SSM086, SSM020, SSM015, SSM005, SSM080, SSM037, SSM010, SSM099, SSM052, SSM056
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)esv2746320
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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