A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6889999



Internal ID9666522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47972624..47972801hg38UCSC Ensembl
Outerchr7:48012221..48012398hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734364, esv2734363
Supporting Variants
SamplesSSM012
Known GenesHUS1
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)essv6889999
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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