A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589187



Internal ID6972122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235002976..235005557hg38UCSC Ensembl
Innerchr1:235002993..235005541hg38UCSC Ensembl
Outerchr1:235002960..235005574hg38UCSC Ensembl
chr1:235138723..235141304hg19UCSC Ensembl
Innerchr1:235138740..235141288hg19UCSC Ensembl
Outerchr1:235138707..235141321hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382582
hg192582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10331788, essv10331789
SamplesHG01846, HG02060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589187
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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