A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596004



Internal ID6983322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42777215..42780012hg38UCSC Ensembl
Innerchr3:42777228..42779999hg38UCSC Ensembl
Outerchr3:42777202..42780025hg38UCSC Ensembl
chr3:42818707..42821504hg19UCSC Ensembl
Innerchr3:42818720..42821491hg19UCSC Ensembl
Outerchr3:42818694..42821517hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382798
hg192798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10991788, essv10991790, essv10991786, essv10991789, essv10991792, essv10991784, essv10991791, essv10991787, essv10991785
SamplesHG03812, HG04094, HG02603, NA20885, HG03898, HG03720, HG03848, HG03838, HG03925
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596004
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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