A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591929



Internal ID6632213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108610887..108621420hg38UCSC Ensembl
Innerchr2:108610887..108621420hg38UCSC Ensembl
Outerchr2:108610663..108621680hg38UCSC Ensembl
chr2:109227343..109237876hg19UCSC Ensembl
Innerchr2:109227343..109237876hg19UCSC Ensembl
Outerchr2:109227119..109238136hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3810534
hg1910534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10611101, essv10611098, essv10611097, essv10611099, essv10611102, essv10611100, essv10611103, essv10611104
SamplesHG03829, HG03730, HG01619, HG03752, HG04093, HG02651, NA21095, HG03686
Known GenesLIMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591929
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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