A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735512



Internal ID10319148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154676386..154676665hg38UCSC Ensembl
Outerchr7:154468096..154468375hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754868, essv6890563
SamplesSSM097, SSM058
Known GenesDPP6
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)esv2735512
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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