A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585834



Internal ID6626149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41880415..41885091hg38UCSC Ensembl
Innerchr1:41880465..41885042hg38UCSC Ensembl
Outerchr1:41880366..41885141hg38UCSC Ensembl
chr1:42346086..42350762hg19UCSC Ensembl
Innerchr1:42346136..42350713hg19UCSC Ensembl
Outerchr1:42346037..42350812hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384677
hg194677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv18e214
Supporting Variantsessv9920117
SamplesHG03049
Known GenesHIVEP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585834
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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