A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10299737



Internal ID3932941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221392304..221447474hg38UCSC Ensembl
Innerchr1:221392304..221447474hg38UCSC Ensembl
Outerchr1:221391804..221447974hg38UCSC Ensembl
chr1:221565646..221620816hg19UCSC Ensembl
Innerchr1:221565646..221620816hg19UCSC Ensembl
Outerchr1:221565146..221621316hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3855171
hg1955171
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588920
Supporting Variants
SamplesHG03585
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10299737
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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