A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735220



Internal ID9969550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138637227..138637578hg38UCSC Ensembl
Outerchr7:138321972..138322323hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671671, essv6957609, essv6975431, essv6719788, essv6935109, essv6952269
SamplesSSM021, SSM029, SSM026, SSM031, SSM044, SSM025
Known GenesSVOPL
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)esv2735220
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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