A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727937



Internal ID9962249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87197209..87197275hg38UCSC Ensembl
Outerchr4:88118361..88118427hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848377
SamplesSSM086
Known GenesKLHL8
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)esv2727937
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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