A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586133



Internal ID6973653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56889897..56897249hg38UCSC Ensembl
Innerchr1:56889922..56897225hg38UCSC Ensembl
Outerchr1:56889873..56897274hg38UCSC Ensembl
chr1:57355570..57362922hg19UCSC Ensembl
Innerchr1:57355595..57362898hg19UCSC Ensembl
Outerchr1:57355546..57362947hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg387353
hg197353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9937709
SamplesHG03159
Known GenesC8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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