A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728920



Internal ID10312556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:185796394..185796857hg38UCSC Ensembl
Outerchr4:186717548..186718011hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848569, essv6781864, essv6951543, essv6726793, essv6711522, essv6798484, essv6730548, essv6693812, essv6786049, essv6722921, essv6833470, essv6774311, essv6930104, essv6934312, essv6814017, essv6822122, essv6956412, essv6899406, essv6942958, essv6974141, essv6719072, essv6840908, essv6968980, essv6938644, essv6963118, essv6844642
SamplesSSM100, SSM027, SSM045, SSM046, SSM079, SSM042, SSM023, SSM028, SSM084, SSM021, SSM047, SSM069, SSM029, SSM026, SSM044, SSM086, SSM066, SSM085, SSM068, SSM072, SSM082, SSM020, SSM037, SSM077, SSM022, SSM025
Known GenesSORBS2
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)esv2728920
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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