A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9961347



Internal ID1073825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69508268..69520608hg38UCSC Ensembl
Innerchr1:69508768..69520108hg38UCSC Ensembl
Outerchr1:69507268..69521608hg38UCSC Ensembl
chr1:69973951..69986291hg19UCSC Ensembl
Innerchr1:69974451..69985791hg19UCSC Ensembl
Outerchr1:69972951..69987291hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812341
hg1912341
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586331
Supporting Variants
SamplesHG00698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9961347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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