A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587748



Internal ID6975171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162450923..162457517hg38UCSC Ensembl
Innerchr1:162450977..162457464hg38UCSC Ensembl
Outerchr1:162450870..162457571hg38UCSC Ensembl
chr1:162420713..162427307hg19UCSC Ensembl
Innerchr1:162420767..162427254hg19UCSC Ensembl
Outerchr1:162420660..162427361hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386595
hg196595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10169994, essv10169996, essv10169995, essv10169993
SamplesHG01060, NA19443, HG01990, NA19380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587748
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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