A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6708004



Internal ID9776188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87197120..87197242hg38UCSC Ensembl
Outerchr4:88118272..88118394hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727936
Supporting Variants
SamplesSSM041
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)essv6708004
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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