A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748901



Internal ID9983185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77269338..77269983hg38UCSC Ensembl
Outerchr14:77735681..77736326hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977779, essv6835157, essv6728603, essv6823937, essv6912902, essv6905181, essv6941429, essv6900843, essv6891529, essv6706470, essv6953546, essv6836865, essv6732435, essv6806604, essv6695875, essv6959788, essv6916389, essv6783863, essv6932174, essv6775981, essv6800540, essv6876896, essv6846181, essv6949388, essv6691856, essv6945281, essv6928175, essv6747072, essv6971158, essv6940649, essv6966285, essv6761175, essv6936464, essv6744231, essv6681864, essv6868431, essv6808387, essv6772365, essv6739486, essv6779748, essv6768735, essv6741340, essv6796323, essv6857680, essv6924637, essv6831605, essv6901605, essv6673659, essv6842739, essv6774864
SamplesSSM100, SSM036, SSM008, SSM071, SSM027, SSM024, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM013, SSM009, SSM074, SSM023, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM061, SSM029, SSM026, SSM019, SSM003, SSM031, SSM067, SSM001, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM053, SSM037, SSM022, SSM010, SSM055, SSM025, SSM052, SSM012
Known GenesNGB
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)esv2748901
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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