A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10207581



Internal ID2097776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182330045..182350555hg38UCSC Ensembl
Innerchr1:182330195..182350405hg38UCSC Ensembl
Outerchr1:182329895..182350705hg38UCSC Ensembl
chr1:182299180..182319690hg19UCSC Ensembl
Innerchr1:182299330..182319540hg19UCSC Ensembl
Outerchr1:182299030..182319840hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3820511
hg1920511
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588100
Supporting Variants
SamplesHG01912
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10207581
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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