A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12760908



Internal ID6903418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47544959..47547631hg38UCSC Ensembl
Innerchr7:47544965..47547625hg38UCSC Ensembl
Outerchr7:47544953..47547637hg38UCSC Ensembl
chr7:47584557..47587229hg19UCSC Ensembl
Innerchr7:47584563..47587223hg19UCSC Ensembl
Outerchr7:47584551..47587235hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg382673
hg192673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613061
Supporting Variants
SamplesNA21110
Known GenesTNS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12760908
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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