A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719384



Internal ID3269880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:169473732..169475077hg38UCSC Ensembl
Outerchr1:169442970..169444315hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381346
hg191346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933429, essv6950681, essv6714364, essv6670210, essv6697077, essv6902651, essv6719776
SamplesSSM007, SSM013, SSM043, SSM025, SSM005, SSM021, SSM038
Known GenesSLC19A2
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)esv2719384
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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