A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734835



Internal ID9969165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94658165..94658320hg38UCSC Ensembl
Outerchr7:94287477..94287632hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948130, essv6849638, essv6719745
SamplesSSM086, SSM024, SSM044
Known GenesPEG10
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)esv2734835
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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