A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587724



Internal ID6975147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161027689..161029272hg38UCSC Ensembl
Innerchr1:161027694..161029267hg38UCSC Ensembl
Outerchr1:161027684..161029277hg38UCSC Ensembl
chr1:160997479..160999062hg19UCSC Ensembl
Innerchr1:160997484..160999057hg19UCSC Ensembl
Outerchr1:160997474..160999067hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381584
hg191584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10168307, essv10168303, essv10168286, essv10168290, essv10168302, essv10168301, essv10168291, essv10168292, essv10168294, essv10168296, essv10168306, essv10168288, essv10168298, essv10168308, essv10168287, essv10168299, essv10168295, essv10168304, essv10168297, essv10168285, essv10168293, essv10168305, essv10168289, essv10168300
SamplesHG02944, HG03121, HG02419, NA18877, NA20346, NA19443, HG02756, HG03342, NA20278, HG03394, HG03270, HG02479, NA18907, NA19114, NA18856, HG03367, NA19473, NA19324, HG03304, HG02974, HG02970, HG03351, HG02051, HG03118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587724
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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