A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9935631



Internal ID4648111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54876551..54877704hg38UCSC Ensembl
Innerchr1:54876551..54877704hg38UCSC Ensembl
Outerchr1:54876160..54877983hg38UCSC Ensembl
chr1:55342224..55343377hg19UCSC Ensembl
Innerchr1:55342224..55343377hg19UCSC Ensembl
Outerchr1:55341833..55343656hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586105
Supporting Variants
SamplesHG04180
Known GenesDHCR24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9935631
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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