A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614926



Internal ID7001818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126199004..126423897hg38UCSC Ensembl
Innerchr7:126199015..126423886hg38UCSC Ensembl
Outerchr7:126198993..126423908hg38UCSC Ensembl
chr7:125839058..126063951hg19UCSC Ensembl
Innerchr7:125839069..126063940hg19UCSC Ensembl
Outerchr7:125839047..126063962hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38224894
hg19224894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12952696
SamplesNA19117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614926
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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