A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588495



Internal ID6628787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197263455..197266775hg38UCSC Ensembl
Innerchr1:197263455..197266775hg38UCSC Ensembl
Outerchr1:197263406..197266899hg38UCSC Ensembl
chr1:197232585..197235905hg19UCSC Ensembl
Innerchr1:197232585..197235905hg19UCSC Ensembl
Outerchr1:197232536..197236029hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383321
hg193321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253785, essv10253784, essv10253783
SamplesHG03593, HG04020, HG02012
Known GenesCRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588495
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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