A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9839570



Internal ID6464863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:938011..938662hg38UCSC Ensembl
Innerchr1:938011..938662hg38UCSC Ensembl
Outerchr1:937690..938998hg38UCSC Ensembl
chr1:873391..874042hg19UCSC Ensembl
Innerchr1:873391..874042hg19UCSC Ensembl
Outerchr1:873070..874378hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584987
Supporting Variants
SamplesHG00632
Known GenesSAMD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9839570
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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