A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722184



Internal ID9956483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:209761998..209762730hg38UCSC Ensembl
Outerchr1:209935343..209936075hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813305, essv6686289, essv6807508, essv6847274, essv6669209, essv6906260, essv6675359, essv6825141, essv6954994, essv6880547
SamplesSSM075, SSM026, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, 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)esv2722184
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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