A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611985



Internal ID6998887
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12671753, essv12671752, essv12671751, essv12671754
SamplesHG02323, NA19323, NA19474, NA19129
Known GenesRNF216
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611985
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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