A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10360087



Internal ID2089105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244626270..244630147hg38UCSC Ensembl
Innerchr1:244626287..244630130hg38UCSC Ensembl
Outerchr1:244626253..244630164hg38UCSC Ensembl
chr1:244789572..244793449hg19UCSC Ensembl
Innerchr1:244789589..244793432hg19UCSC Ensembl
Outerchr1:244789555..244793466hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383878
hg193878
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589412
Supporting Variants
SamplesHG01893
Known GenesC1orf101
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10360087
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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