A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947422



Internal ID9709941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150271452..150271658hg38UCSC Ensembl
Outerchr4:151192604..151192810hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728526
Supporting Variants
SamplesSSM024
Known GenesLRBA
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)essv6947422
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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