A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748720



Internal ID9983004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:52785733..52788459hg38UCSC Ensembl
Outerchr14:53252451..53255177hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382727
hg192727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755786, essv6836743, essv6842719, essv6882533
SamplesSSM058, SSM084, SSM094, SSM010
Known GenesGNPNAT1
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)esv2748720
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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