A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754855



Internal ID9814952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143935908..143960816hg38UCSC Ensembl
Outerchr7:143633001..143657909hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3824909
hg1924909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735282
Supporting Variants
SamplesSSM058
Known GenesOR2F1, OR2F2
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)essv6754855
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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