A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588494



Internal ID6628786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197260766..197264726hg38UCSC Ensembl
Innerchr1:197260766..197264726hg38UCSC Ensembl
Outerchr1:197260557..197265034hg38UCSC Ensembl
chr1:197229896..197233856hg19UCSC Ensembl
Innerchr1:197229896..197233856hg19UCSC Ensembl
Outerchr1:197229687..197234164hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383961
hg193961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253782, essv10253781
SamplesNA20588, HG02012
Known GenesCRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588494
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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