A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727159



Internal ID9961467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9950475..9951073hg38UCSC Ensembl
Outerchr4:9952099..9952697hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860094, essv6962767, essv6973753, essv6829676, essv6848214, essv6864879, essv6730346, essv6817466, essv6802160, essv6754076, essv6697523, essv6718844, essv6889649, essv6804997, essv6813825, essv6683457, essv6794092, essv6748325, essv6854375, essv6880974, essv6751166, essv6906876, essv6938433, essv6726571, essv6670176, essv6968758
SamplesSSM071, SSM027, SSM046, SSM087, SSM038, SSM097, SSM073, SSM074, SSM088, SSM057, SSM058, SSM028, SSM047, SSM029, SSM089, SSM094, SSM031, SSM044, SSM014, SSM086, SSM081, SSM078, SSM077, SSM022, SSM034, SSM056
Known GenesSLC2A9
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)esv2727159
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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