A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748921



Internal ID9812127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35886277..35950510hg38UCSC Ensembl
Outerchr7:35925887..35990120hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3864234
hg1964234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734248
Supporting Variants
SamplesSSM056
Known GenesSEPT7
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)essv6748921
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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