A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718847



Internal ID9953139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53962371..53962769hg38UCSC Ensembl
Outerchr19:54465625..54466023hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746643, essv6744770, essv6666539, essv6815009, essv6877484, essv6954422, essv6729363, essv6902297, essv6843596, essv6668763, essv6667332, essv6738667, essv6717903, essv6820941, essv6758903, essv6769308, essv6950237, essv6933020, essv6921430, essv6753346, essv6858831
SamplesSSM059, SSM024, SSM046, SSM064, SSM087, SSM009, SSM050, SSM057, SSM092, SSM084, SSM029, SSM017, SSM020, SSM007, SSM078, SSM053, SSM025, SSM004, SSM043, SSM030, SSM012
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)esv2718847
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer