A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718147



Internal ID10301783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8904496..8907503hg38UCSC Ensembl
Outerchr19:9015172..9018179hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383008
hg193008
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, essv6769241, essv6779487, essv6773097, essv6820843, essv6863568
SamplesSSM064, SSM065, SSM088, SSM084, SSM021, SSM061, SSM001, 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)esv2718147
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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