A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613941



Internal ID7000836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83644016..83714960hg38UCSC Ensembl
Innerchr7:83644016..83714960hg38UCSC Ensembl
Outerchr7:83643516..83715460hg38UCSC Ensembl
chr7:83273332..83344276hg19UCSC Ensembl
Innerchr7:83273332..83344276hg19UCSC Ensembl
Outerchr7:83272832..83344776hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3870945
hg1970945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12874792
SamplesHG04054
Known GenesSEMA3E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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