A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748891



Internal ID10329861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:76856513..76856974hg38UCSC Ensembl
Outerchr14:77322856..77323317hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717094, essv6800539, essv6831603, essv6905180, essv6949386, essv6966282, essv6842736, essv6732434
SamplesSSM027, SSM024, SSM013, SSM084, SSM047, SSM081, SSM072, SSM043
Known GenesC14orf166B
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)esv2748891
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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