A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587604



Internal ID6975026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154351691..154353931hg38UCSC Ensembl
Innerchr1:154351715..154353908hg38UCSC Ensembl
Outerchr1:154351668..154353955hg38UCSC Ensembl
chr1:154324167..154326407hg19UCSC Ensembl
Innerchr1:154324191..154326384hg19UCSC Ensembl
Outerchr1:154324144..154326431hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382241
hg192241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10151998, essv10151997
SamplesNA19443, NA19011
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587604
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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