A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746283



Internal ID9980567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101920300..101920407hg38UCSC Ensembl
Outerchr12:102314078..102314185hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851284, essv6965865, essv6959357, essv6862463, essv6857291
SamplesSSM027, SSM086, SSM088, SSM087, SSM026
Known GenesDRAM1
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)esv2746283
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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