A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747002



Internal ID9981286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132496537..132497295hg38UCSC Ensembl
Outerchr12:133073123..133073881hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768581, essv6729264, essv6835632, essv6746930, essv6873759, essv6965968, essv6806843, essv6791963, essv6846034, essv6775807, essv6900332, essv6765839, essv6831411, essv6876750
SamplesSSM027, SSM064, SSM009, SSM092, SSM001, SSM066, SSM085, SSM081, SSM010, SSM091, SSM055, SSM070, SSM063, SSM012
Known GenesFBRSL1
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)esv2747002
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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