A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932413



Internal ID519506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54272813..54276605hg38UCSC Ensembl
Innerchr1:54272813..54276605hg38UCSC Ensembl
Outerchr1:54272669..54276800hg38UCSC Ensembl
chr1:54738486..54742278hg19UCSC Ensembl
Innerchr1:54738486..54742278hg19UCSC Ensembl
Outerchr1:54738342..54742473hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383793
hg193793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586088
Supporting Variants
SamplesHG00187
Known GenesSSBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932413
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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