A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594895



Internal ID6635170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:249794..256612hg38UCSC Ensembl
Innerchr3:250294..256112hg38UCSC Ensembl
Outerchr3:248794..257612hg38UCSC Ensembl
chr3:291477..298295hg19UCSC Ensembl
Innerchr3:291977..297795hg19UCSC Ensembl
Outerchr3:290477..299295hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg386819
hg196819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10897472, essv10897470, essv10897471
SamplesHG02238, HG01886, HG02769
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594895
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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