A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607577



Internal ID6994509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171120878..171146193hg38UCSC Ensembl
Innerchr5:171120891..171146180hg38UCSC Ensembl
Outerchr5:171120865..171146206hg38UCSC Ensembl
chr5:170547882..170573197hg19UCSC Ensembl
Innerchr5:170547895..170573184hg19UCSC Ensembl
Outerchr5:170547869..170573210hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3825316
hg1925316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12132599
SamplesHG02879
Known GenesRANBP17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607577
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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