A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717963



Internal ID10301599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3649474..3649798hg38UCSC Ensembl
Outerchr19:3649472..3649796hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713903, essv6932905, essv6871444, essv6868360, essv6858683, essv6967412, essv6820826, essv6717783, essv6960926, essv6678835, essv6883031, essv6863552
SamplesSSM027, SSM087, SSM042, SSM088, SSM090, SSM026, SSM089, SSM094, SSM032, SSM020, SSM078, SSM043
Known GenesPIP5K1C
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)esv2717963
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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