A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748798



Internal ID9983082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65611003..65611427hg38UCSC Ensembl
Outerchr14:66077721..66078145hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905170, essv6897850, essv6953533, essv6768724, essv6941329, essv6678104, essv6806600, essv6685344, essv6920501, essv6851660, essv6842727, essv6945270, essv6894911, essv6959764, essv6713249, essv6695861, essv6706462, essv6709739, essv6828005, essv6702745, essv6732422, essv6803693, essv6885270, essv6940639, essv6779735, essv6924625, essv6901594, essv6792150, essv6912891, essv6932165
SamplesSSM064, SSM039, SSM013, SSM073, SSM074, SSM042, SSM041, SSM023, SSM084, SSM047, SSM018, SSM026, SSM017, SSM032, SSM003, SSM067, SSM086, SSM040, SSM020, SSM015, SSM080, SSM037, SSM022, SSM070, SSM095, SSM025, SSM034, SSM099, SSM098, SSM012
Known GenesFUT8
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)esv2748798
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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