A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746559



Internal ID10327529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125114474..125114953hg38UCSC Ensembl
Outerchr12:125599020..125599499hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965901, essv6775778, essv6677902, essv6959391, essv6945037, essv6768560, essv6787830
SamplesSSM027, SSM064, SSM023, SSM069, SSM026, SSM032, SSM066
Known GenesAACS
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)esv2746559
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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