A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587516



Internal ID6974939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150915788..150917790hg38UCSC Ensembl
Innerchr1:150915853..150917726hg38UCSC Ensembl
Outerchr1:150915724..150917855hg38UCSC Ensembl
chr1:150888264..150890266hg19UCSC Ensembl
Innerchr1:150888329..150890202hg19UCSC Ensembl
Outerchr1:150888200..150890331hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382003
hg192003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145232
SamplesHG01767
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587516
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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