A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9916760



Internal ID2334052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40511009..40517480hg38UCSC Ensembl
Innerchr1:40511159..40517330hg38UCSC Ensembl
Outerchr1:40510859..40517630hg38UCSC Ensembl
chr1:40976681..40983152hg19UCSC Ensembl
Innerchr1:40976831..40983002hg19UCSC Ensembl
Outerchr1:40976531..40983302hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386472
hg196472
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585807
Supporting Variants
SamplesHG02075
Known GenesEXO5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9916760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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