A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734322



Internal ID9968649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44227362..44227778hg38UCSC Ensembl
Outerchr7:44266961..44267377hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834010, essv6757563, essv6893745, essv6719663
SamplesSSM082, SSM044, SSM098, SSM059
Known GenesCAMK2B
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)esv2734322
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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