A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930779



Internal ID10038206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:78505708..78506119hg38UCSC Ensembl
Outerchr7:78135025..78135436hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734713, esv2734712
Supporting Variants
SamplesSSM020
Known GenesMAGI2
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)essv6930779
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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