A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588104



Internal ID6975528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182577149..182578712hg38UCSC Ensembl
Innerchr1:182577182..182578679hg38UCSC Ensembl
Outerchr1:182577116..182578745hg38UCSC Ensembl
chr1:182546284..182547847hg19UCSC Ensembl
Innerchr1:182546317..182547814hg19UCSC Ensembl
Outerchr1:182546251..182547880hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381564
hg191564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10208510
SamplesNA20851
Known GenesRNASEL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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