A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10306457



Internal ID2306195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224136563..224139548hg38UCSC Ensembl
Innerchr1:224136563..224139548hg38UCSC Ensembl
Outerchr1:224136224..224139933hg38UCSC Ensembl
chr1:224324265..224327250hg19UCSC Ensembl
Innerchr1:224324265..224327250hg19UCSC Ensembl
Outerchr1:224323926..224327635hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg382986
hg192986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588968
Supporting Variants
SamplesHG02054
Known GenesFBXO28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10306457
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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