A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599422



Internal ID6986469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3118322..3119179hg38UCSC Ensembl
Innerchr4:3118324..3119178hg38UCSC Ensembl
Outerchr4:3118321..3119181hg38UCSC Ensembl
chr4:3120049..3120906hg19UCSC Ensembl
Innerchr4:3120051..3120905hg19UCSC Ensembl
Outerchr4:3120048..3120908hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317301
SamplesHG02727
Known GenesHTT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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