A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10271176



Internal ID6285009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205282381..205283361hg38UCSC Ensembl
Innerchr1:205282381..205283361hg38UCSC Ensembl
Outerchr1:205282182..205283598hg38UCSC Ensembl
chr1:205251509..205252489hg19UCSC Ensembl
Innerchr1:205251509..205252489hg19UCSC Ensembl
Outerchr1:205251310..205252726hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588634
Supporting Variants
SamplesNA19819
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10271176
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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