A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746303



Internal ID9980587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103980022..103982808hg38UCSC Ensembl
Outerchr12:104373800..104376586hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382787
hg192787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904961, essv6842489, essv6970864, essv6681634, essv6959359, essv6912664
SamplesSSM013, SSM028, SSM084, SSM026, SSM033, SSM015
Known GenesTDG
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)esv2746303
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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