A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671752



Internal ID5756235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5779698..5780611hg38UCSC Ensembl
Innerchr7:5779734..5780576hg38UCSC Ensembl
Outerchr7:5779663..5780647hg38UCSC Ensembl
chr7:5819329..5820242hg19UCSC Ensembl
Innerchr7:5819365..5820207hg19UCSC Ensembl
Outerchr7:5819294..5820278hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38914
hg19914
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611985
Supporting Variants
SamplesNA19129
Known GenesRNF216
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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