A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718538



Internal ID9952829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38902320..38902758hg38UCSC Ensembl
Outerchr19:39392960..39393398hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902256, essv6747581, essv6898391, essv6756344, essv6832300, essv6814532, essv6967504, essv6961021, essv6741907, essv6954375, essv6804222, essv6733186, essv6925375, essv6674815, essv6692467, essv6846739, essv6971949, essv6921371, essv6725518, essv6863624, essv6950201, essv6744736, essv6874451, essv6781710
SamplesSSM036, SSM008, SSM027, SSM024, SSM045, SSM009, SSM073, SSM088, SSM058, SSM028, SSM047, SSM018, SSM026, SSM017, SSM031, SSM085, SSM081, SSM053, SSM091, SSM055, SSM025, SSM099, SSM052, SSM012
Known GenesNFKBIB
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)esv2718538
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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