A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734929



Internal ID10318565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101415814..101416960hg38UCSC Ensembl
Outerchr7:101059095..101060241hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754802, essv6907912, essv6746164, essv6915343, essv6708702, essv6805703, essv6907913
SamplesSSM074, SSM041, SSM058, SSM014, SSM016, SSM055
Known GenesCOL26A1
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)esv2734929
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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