A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922560



Internal ID10031737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38982445..38983607hg38UCSC Ensembl
Outerchr4:38984065..38985227hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381163
hg191163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727453
Supporting Variants
SamplesSSM018
Known GenesTMEM156
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)essv6922560
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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