A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587596



Internal ID6975018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153889247..153890010hg38UCSC Ensembl
Innerchr1:153889300..153889957hg38UCSC Ensembl
Outerchr1:153889194..153890063hg38UCSC Ensembl
chr1:153861723..153862486hg19UCSC Ensembl
Innerchr1:153861776..153862433hg19UCSC Ensembl
Outerchr1:153861670..153862539hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10151449
SamplesHG00345
Known GenesGATAD2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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