A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748998



Internal ID9983282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88789490..88789703hg38UCSC Ensembl
Outerchr14:89255834..89256047hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688526, essv6851699, essv6868564, essv6698974, essv6779756, essv6838906, essv6706481, essv6891541, essv6909171, essv6788084, essv6894929, essv6897864, essv6741350, essv6857700, essv6823946, essv6882566, essv6870955, essv6888240, essv6728612, essv6945297, essv6695892, essv6717105, essv6959809, essv6949402, essv6835167, essv6977802
SamplesSSM082, SSM086, SSM099, SSM040, SSM043, SSM090, SSM035, SSM024, SSM067, SSM094, SSM083, SSM097, SSM011, SSM029, SSM069, SSM037, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM052, SSM026, SSM014, SSM098
Known GenesEML5
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)esv2748998
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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