A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587541



Internal ID6974964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152080623..152081698hg38UCSC Ensembl
Innerchr1:152080633..152081688hg38UCSC Ensembl
Outerchr1:152080613..152081708hg38UCSC Ensembl
chr1:152053099..152054174hg19UCSC Ensembl
Innerchr1:152053109..152054164hg19UCSC Ensembl
Outerchr1:152053089..152054184hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145890, essv10145889, essv10145887, essv10145894, essv10145891, essv10145897, essv10145886, essv10145892, essv10145888, essv10145885, essv10145893, essv10145896, essv10145895
SamplesNA18861, NA19355, HG03515, NA18870, NA19446, NA19404, HG03132, NA19403, NA18856, NA19401, NA19321, NA19328, NA20348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587541
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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