A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6975223



Internal ID9736083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38253400..38316990hg38UCSC Ensembl
Outerchr7:38293001..38356591hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3863591
hg1963591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734277
Supporting Variants
SamplesSSM029
Known GenesTARP
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)essv6975223
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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