A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718727



Internal ID9953019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50292090..50292799hg38UCSC Ensembl
Outerchr19:50795347..50796056hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781988, essv6717885, essv6824690, essv6925400, essv6784686, essv6828755, essv6843574, essv6733209, essv6666510, essv6852846, essv6788853, essv6812979, essv6703583, essv6932996, essv6902281, essv6674837, essv6668750
SamplesSSM008, SSM079, SSM039, SSM084, SSM047, SSM018, SSM069, SSM029, SSM031, SSM086, SSM068, SSM020, SSM080, SSM076, SSM043, SSM030, SSM012
Known GenesMYH14
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)esv2718727
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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