A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588534



Internal ID6975951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198788167..198792746hg38UCSC Ensembl
Innerchr1:198788181..198792732hg38UCSC Ensembl
Outerchr1:198788153..198792760hg38UCSC Ensembl
chr1:198757296..198761875hg19UCSC Ensembl
Innerchr1:198757310..198761861hg19UCSC Ensembl
Outerchr1:198757282..198761889hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384580
hg194580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10258102
SamplesNA19090
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588534
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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