A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586828



Internal ID6972000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93338495..93341568hg38UCSC Ensembl
Innerchr1:93338496..93341567hg38UCSC Ensembl
Outerchr1:93338494..93341569hg38UCSC Ensembl
chr1:93804052..93807125hg19UCSC Ensembl
Innerchr1:93804053..93807124hg19UCSC Ensembl
Outerchr1:93804051..93807126hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg383074
hg193074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10022151, essv10022150, essv10022147, essv10022148, essv10022152, essv10022149
SamplesHG02642, HG02879, HG02479, HG02429, HG03446, HG03539
Known GenesLOC100131564
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586828
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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