A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715884



Internal ID9950171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:107860321..107862859hg38UCSC Ensembl
Outerchr1:108402943..108405481hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382539
hg192539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804468, essv6902611, essv6682901, essv6675284, essv6696220, essv6914062
SamplesSSM013, SSM006, SSM016, SSM032, SSM034, SSM074
Known GenesVAV3
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)esv2715884
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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