A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734930



Internal ID10318566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101489556..101489966hg38UCSC Ensembl
Outerchr7:101132837..101133247hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969741, essv6849654, essv6667735, essv6952242, essv6701437, essv6748979, essv6760279, essv6878856
SamplesSSM039, SSM093, SSM028, SSM061, SSM086, SSM025, SSM056, SSM030
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)esv2734930
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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