A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735222



Internal ID9969552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138637415..138637547hg38UCSC Ensembl
Outerchr7:138322160..138322292hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957609, essv6719788
SamplesSSM026, SSM044
Known GenesSVOPL
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)esv2735222
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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