A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079713



Internal ID81529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114774344..114779149hg38UCSC Ensembl
Innerchr1:114774494..114778999hg38UCSC Ensembl
Outerchr1:114774194..114779299hg38UCSC Ensembl
chr1:115316965..115321770hg19UCSC Ensembl
Innerchr1:115317115..115321620hg19UCSC Ensembl
Outerchr1:115316815..115321920hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg384806
hg194806
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587275
Supporting Variants
SamplesNA18523
Known GenesSIKE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079713
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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