A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6975514



Internal ID10082507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155673467..155673603hg38UCSC Ensembl
Outerchr7:155466161..155466297hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735590
Supporting Variants
SamplesSSM029
Known GenesRBM33
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)essv6975514
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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