A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746218



Internal ID10327188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93554219..93554869hg38UCSC Ensembl
Outerchr12:93947995..93948645hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945010, essv6803549, essv6831354, essv6939507, essv6873723, essv6772093, essv6931894, essv6908935, essv6668238, essv6728381, essv6806142, essv6772575, essv6779515, essv6857279, essv6924400, essv6787808, essv6691656, essv6920236, essv6940388, essv6977281, essv6912655, essv6965853, essv6728380, essv6695602
SamplesSSM036, SSM008, SSM027, SSM046, SSM065, SSM087, SSM009, SSM073, SSM023, SSM018, SSM069, SSM029, SSM017, SSM003, SSM067, SSM014, SSM081, SSM020, SSM015, SSM037, SSM022, SSM091, SSM030
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)esv2746218
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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