A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735216



Internal ID9969546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138355095..138355285hg38UCSC Ensembl
Outerchr7:138039840..138040030hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701475, essv6964305, essv6805737, essv6708735, essv6731218, essv6907953, essv6904051, essv6837782
SamplesSSM083, SSM027, SSM039, SSM013, SSM074, SSM041, SSM047, SSM014
Known Genes
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)esv2735216
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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