A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10049894



Internal ID6046806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:106326240..106420207hg38UCSC Ensembl
Innerchr1:106326273..106420175hg38UCSC Ensembl
Outerchr1:106326208..106420240hg38UCSC Ensembl
chr1:106868862..106962829hg19UCSC Ensembl
Innerchr1:106868895..106962797hg19UCSC Ensembl
Outerchr1:106868830..106962862hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3893968
hg1993968
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587091
Supporting Variants
SamplesNA19446
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10049894
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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