A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748787



Internal ID9983071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65060383..65060831hg38UCSC Ensembl
Outerchr14:65527101..65527549hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910407, essv6779732, essv6941296, essv6936448, essv6901592, essv6836809, essv6820052, essv6920499, essv6749884, essv6831591, essv6905168, essv6857661, essv6808287, essv6775967, essv6959760, essv6953530
SamplesSSM087, SSM013, SSM009, SSM002, SSM021, SSM026, SSM017, SSM003, SSM067, SSM066, SSM081, SSM078, SSM010, SSM025, SSM056, SSM012
Known GenesCHURC1-FNTB, FNTB, MAX
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)esv2748787
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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