A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10349383



Internal ID2859961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240335209..240347047hg38UCSC Ensembl
Innerchr1:240335209..240347047hg38UCSC Ensembl
Outerchr1:240334709..240347547hg38UCSC Ensembl
chr1:240498509..240510347hg19UCSC Ensembl
Innerchr1:240498509..240510347hg19UCSC Ensembl
Outerchr1:240498009..240510847hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3811839
hg1911839
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589308
Supporting Variants
SamplesHG02536
Known GenesFMN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10349383
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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