A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6896490



Internal ID9943636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143844449..143965505hg38UCSC Ensembl
Outerchr4:144765602..144886658hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38121057
hg19121057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728477, esv2728479
Supporting Variants
SamplesSSM099
Known GenesGYPE
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)essv6896490
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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