A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587805



Internal ID6628106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165500610..165504859hg38UCSC Ensembl
Innerchr1:165500610..165504859hg38UCSC Ensembl
Outerchr1:165500110..165505359hg38UCSC Ensembl
chr1:165469847..165474096hg19UCSC Ensembl
Innerchr1:165469847..165474096hg19UCSC Ensembl
Outerchr1:165469347..165474596hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg384250
hg194250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10176841
SamplesHG02048
Known GenesLOC400794
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587805
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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