A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748782



Internal ID9983066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64327345..64327581hg38UCSC Ensembl
Outerchr14:64794063..64794299hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709737, essv6940636, essv6812429, essv6851659, essv6885269, essv6681852, essv6977755, essv6740420, essv6901590, essv6772348, essv6792147, essv6796314, essv6959758, essv6868298, essv6809606, essv6928164, essv6920497, essv6717083, essv6691845, essv6949377, essv6905166
SamplesSSM036, SSM071, SSM024, SSM075, SSM011, SSM065, SSM013, SSM041, SSM029, SSM026, SSM017, SSM019, SSM086, SSM033, SSM007, SSM076, SSM022, SSM070, SSM095, SSM043, SSM012
Known GenesESR2, MIR548AZ
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)esv2748782
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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