A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735160



Internal ID9969490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:132132233..132132734hg38UCSC Ensembl
Outerchr7:131816992..131817493hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690784, essv6751867, essv6969766, essv6671657, essv6855753, essv6975411
SamplesSSM036, SSM087, SSM057, SSM028, SSM029, SSM031
Known GenesPLXNA4
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)esv2735160
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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