A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749884



Internal ID10330854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74794154..74794417hg38UCSC Ensembl
Outerchr15:75086495..75086758hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv307e201
Supporting Variantsessv6776092, essv6809717, essv6724892, essv6706585, essv6909297, essv6901720, essv6862916, essv6665346, essv6869542, essv6867705, essv6842879, essv6800661, essv6871057, essv6732537
SamplesSSM075, SSM045, SSM011, SSM088, SSM084, SSM090, SSM047, SSM029, SSM089, SSM014, SSM066, SSM040, SSM072, SSM012
Known GenesCSK
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)esv2749884
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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