A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6903346



Internal ID10015096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:127831511..127832085hg38UCSC Ensembl
Outerchr4:128752666..128753240hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728291
Supporting Variants
SamplesSSM013
Known GenesHSPA4L
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)essv6903346
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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