A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735244



Internal ID9969574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140583249..140584271hg38UCSC Ensembl
Outerchr7:140283049..140284071hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715866, essv6774895, essv6723584
SamplesSSM043, SSM045, SSM066
Known GenesDENND2A
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)esv2735244
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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