A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732693



Internal ID3283189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:128998388..129004421hg38UCSC Ensembl
Outerchr6:129319533..129325566hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg386034
hg196034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907677, essv6690556, essv6926891, essv6774665, essv6802640, essv6705116, essv6899775, essv6961039
SamplesSSM036, SSM040, SSM001, SSM100, SSM066, SSM073, SSM019, SSM014
Known GenesLAMA2
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)esv2732693
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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