A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733622



Internal ID10317258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:531549..531693hg38UCSC Ensembl
Outerchr7:571186..571330hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890351, essv6826585, essv6687400
SamplesSSM097, SSM035, SSM080
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)esv2733622
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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