A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750467



Internal ID9984751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7229333..7230485hg38UCSC Ensembl
Outerchr16:7279334..7280486hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381153
hg191153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936658, essv6838154, essv6820261, essv6820262, essv6851964, essv6738229, essv6857962, essv6776145, essv6942884, essv6920715, essv6851966, essv6815852, essv6905355, essv6857963, essv6842928, essv6877041
SamplesSSM010, SSM092, SSM013, SSM086, SSM084, SSM078, SSM050, SSM077, SSM017, SSM066, SSM003, SSM021, SSM087
Known GenesRBFOX1
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)esv2750467
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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