A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587519



Internal ID6627821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151074551..151078868hg38UCSC Ensembl
Innerchr1:151074582..151078837hg38UCSC Ensembl
Outerchr1:151074520..151078899hg38UCSC Ensembl
chr1:151047027..151051344hg19UCSC Ensembl
Innerchr1:151047058..151051313hg19UCSC Ensembl
Outerchr1:151046996..151051375hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384318
hg194318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145236, essv10145237
SamplesHG01064, HG02855
Known GenesGABPB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587519
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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