A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9925727



Internal ID6551020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45356977..45357813hg38UCSC Ensembl
Innerchr1:45356987..45357804hg38UCSC Ensembl
Outerchr1:45356968..45357823hg38UCSC Ensembl
chr1:45822649..45823485hg19UCSC Ensembl
Innerchr1:45822659..45823476hg19UCSC Ensembl
Outerchr1:45822640..45823495hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585905
Supporting Variants
SamplesHG02121
Known GenesTESK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9925727
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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