A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985418



Internal ID2987234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141465300..141468745hg38UCSC Ensembl
Innerchr7:141465300..141468745hg38UCSC Ensembl
Outerchr7:141464948..141469101hg38UCSC Ensembl
chr7:141165100..141168545hg19UCSC Ensembl
Innerchr7:141165100..141168545hg19UCSC Ensembl
Outerchr7:141164748..141168901hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383446
hg193446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615253
Supporting Variants
SamplesHG00698
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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