A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718124



Internal ID10301760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8449524..8449821hg38UCSC Ensembl
Outerchr19:8514408..8514705hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666387, essv6812922, essv6820840, essv6960952, essv6909752, essv6863563, essv6674760, essv6780472, essv6868368, essv6685895, essv6858706, essv6703511, essv6689035, essv6895537, essv6967435, essv6852756, essv6892070
SamplesSSM027, SSM087, SSM097, SSM039, SSM088, SSM029, SSM026, SSM089, SSM035, SSM031, SSM067, SSM014, SSM086, SSM078, SSM076, SSM034, SSM098
Known GenesHNRNPM
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)esv2718124
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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