A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9916644



Internal ID2369997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40353420..40360425hg38UCSC Ensembl
Innerchr1:40353920..40359925hg38UCSC Ensembl
Outerchr1:40352420..40361425hg38UCSC Ensembl
chr1:40819092..40826097hg19UCSC Ensembl
Innerchr1:40819592..40825597hg19UCSC Ensembl
Outerchr1:40818092..40827097hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387006
hg197006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585802
Supporting Variants
SamplesHG02102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9916644
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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