A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728282



Internal ID10311918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:125564859..126148539hg38UCSC Ensembl
Outerchr4:126486014..127069694hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38583681
hg19583681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751263, essv6742800, essv6693737, essv6742799, essv6869393, essv6942876
SamplesSSM057, SSM023, SSM090, SSM053, SSM037
Known Genes
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)esv2728282
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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