A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725106



Internal ID10308742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32112251..32112535hg38UCSC Ensembl
Outerchr3:32153743..32154027hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947045, essv6789044, essv6711113, essv6854055, essv6962424, essv6942423, essv6955678, essv6770075, essv6926139, essv6954583, essv6820520, essv6872125, essv6864633, essv6921351, essv6859842, essv6817215
SamplesSSM027, SSM024, SSM065, SSM087, SSM009, SSM042, SSM088, SSM023, SSM026, SSM089, SSM019, SSM003, SSM078, SSM010, SSM091, SSM004
Known GenesGPD1L
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)esv2725106
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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