A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718771



Internal ID10302407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51353277..51353988hg38UCSC Ensembl
Outerchr19:51856531..51857242hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835894, essv6807177, essv6810170, essv6895600, essv6707064, essv6780539, essv6842054, essv6954404, essv6735841, essv6784689, essv6961058, essv6941475, essv6750423, essv6967536, essv6824695
SamplesSSM027, SSM075, SSM079, SSM074, SSM026, SSM067, SSM068, SSM040, SSM082, SSM022, SSM010, SSM025, SSM098, SSM049, SSM056
Known GenesETFB
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)esv2718771
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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