A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588499



Internal ID6628791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197361084..197364984hg38UCSC Ensembl
Innerchr1:197361100..197364968hg38UCSC Ensembl
Outerchr1:197361068..197365000hg38UCSC Ensembl
chr1:197330214..197334114hg19UCSC Ensembl
Innerchr1:197330230..197334098hg19UCSC Ensembl
Outerchr1:197330198..197334130hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253815, essv10253814
SamplesNA19795, HG02012
Known GenesCRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588499
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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