A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718144



Internal ID10301780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8895805..8910358hg38UCSC Ensembl
Outerchr19:9006481..9021034hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3814554
hg1914554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761641, essv6937287, essv6954322, essv6843496, essv6895539, essv6874408, essv6902205, essv6738593, essv6937286, essv6769241, essv6779487, essv6773097, essv6820843, essv6716687, essv6946094, essv6761643, essv6863568
SamplesSSM064, SSM065, SSM050, SSM088, SSM023, SSM084, SSM021, SSM061, SSM001, SSM006, SSM078, SSM091, SSM025, SSM098, SSM012
Known GenesMUC16
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)esv2718144
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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