A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818655



Internal ID9871708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139358243..139358529hg38UCSC Ensembl
Outerchr7:139042989..139043275hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735231, esv2735212
Supporting Variants
SamplesSSM078
Known GenesC7orf55-LUC7L2, LUC7L2
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)essv6818655
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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