A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747013



Internal ID10327983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132562987..132563183hg38UCSC Ensembl
Outerchr12:133139573..133139769hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809461, essv6827833, essv6862516, essv6905011, essv6965969, essv6924459, essv6949197, essv6823741, essv6857380, essv6728436, essv6894757, essv6677930, essv6888079, essv6681686, essv6977418, essv6882405, essv6870798, essv6846035, essv6959456, essv6851379, essv6773287, essv6900343
SamplesSSM008, SSM027, SSM024, SSM075, SSM046, SSM079, SSM087, SSM013, SSM088, SSM090, SSM018, SSM029, SSM096, SSM026, SSM094, SSM032, SSM086, SSM033, SSM085, SSM080, SSM098, 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)esv2747013
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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