A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748462



Internal ID10329432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21847324..21895315hg38UCSC Ensembl
Outerchr14:22315506..22363495hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3847992
hg1947990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885240, essv6809574, essv6910218, essv6775938, essv6752747, essv6724734, essv6973162, essv6891490, essv6827977, essv6966205, essv6698929, essv6702707, essv6932125, essv6862683, essv6749859, essv6685306, essv6688822, essv6712599, essv6673581, essv6909111
SamplesSSM027, SSM075, SSM045, SSM038, SSM097, SSM039, SSM088, SSM002, SSM057, SSM031, SSM014, SSM066, SSM006, SSM020, SSM005, SSM080, SSM095, SSM034, SSM004, SSM056
Known Genes
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)esv2748462
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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