A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585677



Internal ID6625992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32776270..32778868hg38UCSC Ensembl
Innerchr1:32776303..32778835hg38UCSC Ensembl
Outerchr1:32776237..32778901hg38UCSC Ensembl
chr1:33241871..33244469hg19UCSC Ensembl
Innerchr1:33241904..33244436hg19UCSC Ensembl
Outerchr1:33241838..33244502hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg382599
hg192599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9896469, essv9896468, essv9896466, essv9896465, essv9896464, essv9896467
SamplesNA20887, HG04202, HG04118, HG03974, HG03237, HG03990
Known GenesYARS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585677
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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