A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735333



Internal ID9969663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149585396..149609102hg38UCSC Ensembl
Outerchr7:149282487..149306193hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3823707
hg1923707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935136, essv6746208
SamplesSSM021, SSM055
Known GenesZNF767
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)esv2735333
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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