A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588603



Internal ID6976019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203817294..203818352hg38UCSC Ensembl
Innerchr1:203817294..203818352hg38UCSC Ensembl
Outerchr1:203817031..203818745hg38UCSC Ensembl
chr1:203786422..203787480hg19UCSC Ensembl
Innerchr1:203786422..203787480hg19UCSC Ensembl
Outerchr1:203786159..203787873hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10266201, essv10266195, essv10266214, essv10266193, essv10266191, essv10266196, essv10266206, essv10266192, essv10266199, essv10266209, essv10266200, essv10266198, essv10266188, essv10266207, essv10266213, essv10266190, essv10266197, essv10266211, essv10266208, essv10266203, essv10266202, essv10266186, essv10266212, essv10266205, essv10266204, essv10266210, essv10266189, essv10266194, essv10266187
SamplesNA12383, HG03821, NA20813, HG01140, HG00138, NA20822, NA07347, NA12761, NA12282, HG02315, HG01628, NA19719, HG03888, NA12828, HG01605, NA20892, HG01360, NA20832, NA20770, HG01607, HG00141, HG01075, NA20872, NA20799, HG03790, HG01113, NA12874, HG00343, NA12776
Known GenesZC3H11A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588603
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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