A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594940



Internal ID6982259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:1002466..1004535hg38UCSC Ensembl
Innerchr3:1002469..1004533hg38UCSC Ensembl
Outerchr3:1002464..1004538hg38UCSC Ensembl
chr3:1044150..1046219hg19UCSC Ensembl
Innerchr3:1044153..1046217hg19UCSC Ensembl
Outerchr3:1044148..1046222hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg382070
hg192070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10898282, essv10898280, essv10898293, essv10898294, essv10898272, essv10898289, essv10898283, essv10898273, essv10898288, essv10898281, essv10898274, essv10898279, essv10898286, essv10898292, essv10898285, essv10898277, essv10898275, essv10898287, essv10898278, essv10898291, essv10898276, essv10898284, essv10898290
SamplesNA18881, HG03130, HG03455, HG03172, HG03069, NA19107, HG03578, NA19024, HG03267, HG03160, NA19175, HG02968, NA18907, NA20299, NA18909, HG02580, NA18501, HG03157, NA19223, NA19121, HG02851, NA18522, HG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594940
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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