A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734997



Internal ID10318633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107976892..107977004hg38UCSC Ensembl
Outerchr7:107617337..107617449hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687536
SamplesSSM035
Known GenesLAMB1
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)esv2734997
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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