A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586946



Internal ID6627254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100585212..100587558hg38UCSC Ensembl
Innerchr1:100585232..100587539hg38UCSC Ensembl
Outerchr1:100585193..100587578hg38UCSC Ensembl
chr1:101050768..101053114hg19UCSC Ensembl
Innerchr1:101050788..101053095hg19UCSC Ensembl
Outerchr1:101050749..101053134hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382347
hg192347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10032397
SamplesHG01980
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586946
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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