A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722162



Internal ID10305798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:209761750..209762896hg38UCSC Ensembl
Outerchr1:209935095..209936241hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813305, essv6686289, essv6807508, essv6847274, essv6669209, essv6742277, essv6906260, essv6675359, essv6825141, essv6954994, essv6880547, essv6816784
SamplesSSM075, SSM026, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM078, SSM053, SSM080, SSM077
Known GenesTRAF3IP3
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)esv2722162
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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