A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749067



Internal ID10330037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96708676..96709110hg38UCSC Ensembl
Outerchr14:97175013..97175447hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788086, essv6720997, essv6966309, essv6673684, essv6945299, essv6796335, essv6775991, essv6941551, essv6815725, essv6713260, essv6800555, essv6838908, essv6678135, essv6724782
SamplesSSM083, SSM071, SSM027, SSM045, SSM042, SSM023, SSM069, SSM032, SSM003, SSM031, SSM044, SSM066, SSM072, SSM077
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)esv2749067
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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