A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584987



Internal ID6625306
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9839574, essv9839571, essv9839570, essv9839575, essv9839569, essv9839572, essv9839573
SamplesHG01859, HG00632, HG00543, NA18544, HG01866, NA18643, NA19074
Known GenesSAMD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584987
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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