A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728882



Internal ID10312518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183932037..183932797hg38UCSC Ensembl
Outerchr4:184853190..184853950hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903411, essv6715170, essv6930098, essv6918394, essv6881162, essv6739656, essv6963103, essv6848558, essv6956397, essv6854682, essv6914778, essv6840902, essv6875430, essv6885175, essv6790160, essv6711515, essv6751324, essv6829851, essv6922735, essv6722915, essv6861486
SamplesSSM027, SSM045, SSM087, SSM013, SSM042, SSM002, SSM057, SSM092, SSM084, SSM018, SSM026, SSM017, SSM094, SSM086, SSM081, SSM020, SSM016, SSM070, SSM043, SSM052, SSM012
Known GenesSTOX2
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)esv2728882
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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