A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854655



Internal ID9905986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168693139..168693213hg38UCSC Ensembl
Outerchr4:169614290..169614364hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728715, esv2728716
Supporting Variants
SamplesSSM087
Known GenesPALLD
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)essv6854655
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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