A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748695



Internal ID10329665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:48294624..48294989hg38UCSC Ensembl
Outerchr14:48763827..48764192hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909139, essv6891511, essv6678092, essv6882530, essv6673622, essv6868209, essv6857644, essv6885259, essv6977736, essv6728587, essv6706452
SamplesSSM046, SSM011, SSM087, SSM097, SSM029, SSM094, SSM032, SSM031, SSM014, SSM040, SSM095
Known Genes
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)esv2748695
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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