A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728291



Internal ID10311927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:127831509..127832132hg38UCSC Ensembl
Outerchr4:128752664..128753287hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883906, essv6903346, essv6922661, essv6785977
SamplesSSM013, SSM018, SSM069, SSM095
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)esv2728291
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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