A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735505



Internal ID10319141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154659962..154660531hg38UCSC Ensembl
Outerchr7:154451672..154452241hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6943894, essv6671717, essv6830556, essv6975499, essv6712228
SamplesSSM042, SSM023, SSM029, SSM031, SSM081
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)esv2735505
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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