A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588496



Internal ID6628788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197299714..197300622hg38UCSC Ensembl
Innerchr1:197299714..197300622hg38UCSC Ensembl
Outerchr1:197299436..197300928hg38UCSC Ensembl
chr1:197268844..197269752hg19UCSC Ensembl
Innerchr1:197268844..197269752hg19UCSC Ensembl
Outerchr1:197268566..197270058hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38909
hg19909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253797, essv10253807, essv10253799, essv10253796, essv10253805, essv10253808, essv10253804, essv10253788, essv10253794, essv10253790, essv10253806, essv10253792, essv10253795, essv10253809, essv10253803, essv10253802, essv10253786, essv10253787, essv10253801, essv10253798, essv10253789, essv10253791, essv10253800, essv10253793
SamplesHG02339, HG02890, NA18508, HG02852, HG03139, NA19374, HG03086, NA19319, HG02840, HG03189, NA19043, NA19160, NA20296, HG02501, NA19435, NA19037, HG03458, NA19144, NA18865, NA20348, NA19779, NA19713, HG03077, HG02643
Known GenesCRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588496
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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