A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586097



Internal ID6626410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54604851..54608100hg38UCSC Ensembl
Innerchr1:54604851..54608100hg38UCSC Ensembl
Outerchr1:54604788..54608252hg38UCSC Ensembl
chr1:55070524..55073773hg19UCSC Ensembl
Innerchr1:55070524..55073773hg19UCSC Ensembl
Outerchr1:55070461..55073925hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932439
SamplesHG02621
Known GenesACOT11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586097
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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