A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12698576



Internal ID5760239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22623992..22630344hg38UCSC Ensembl
Innerchr7:22623992..22630344hg38UCSC Ensembl
Outerchr7:22623835..22630469hg38UCSC Ensembl
chr7:22663611..22669963hg19UCSC Ensembl
Innerchr7:22663611..22669963hg19UCSC Ensembl
Outerchr7:22663454..22670088hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg386353
hg196353
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612522
Supporting Variants
SamplesNA19130
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12698576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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