A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718101



Internal ID10301737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7691733..7692739hg38UCSC Ensembl
Outerchr19:7756619..7757625hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv502e201
Supporting Variantsessv6692419, essv6921304, essv6863560, essv6674757, essv6685894, essv6696662, essv6717797, essv6967431, essv6725470, essv6733137, essv6941393, essv6928753, essv6674758, essv6678842
SamplesSSM036, SSM027, SSM045, SSM088, SSM047, SSM017, SSM019, SSM032, SSM031, SSM037, SSM022, SSM034, SSM043
Known GenesFCER2
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)esv2718101
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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