A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734312



Internal ID10317948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:42733924..42734374hg38UCSC Ensembl
Outerchr7:42773523..42773973hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730509, essv6952160, essv6957436, essv6712078, essv6969643
SamplesSSM042, SSM028, SSM026, SSM007, SSM025
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)esv2734312
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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