A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588100



Internal ID6975524
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e214
Supporting Variantsessv10207581, essv10207580, essv10207582
SamplesNA19456, HG01912, HG01556
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588100
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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