A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586874



Internal ID6972045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96992717..96993027hg38UCSC Ensembl
Innerchr1:96992847..96992897hg38UCSC Ensembl
Outerchr1:96992587..96993157hg38UCSC Ensembl
chr1:97458273..97458583hg19UCSC Ensembl
Innerchr1:97458403..97458453hg19UCSC Ensembl
Outerchr1:97458143..97458713hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10025345, essv10025352, essv10025368, essv10025355, essv10025359, essv10025349, essv10025366, essv10025367, essv10025350, essv10025371, essv10025361, essv10025370, essv10025360, essv10025342, essv10025351, essv10025363, essv10025372, essv10025341, essv10025356, essv10025353, essv10025346, essv10025354, essv10025343, essv10025365, essv10025347, essv10025362, essv10025357, essv10025358, essv10025373, essv10025364, essv10025348, essv10025369, essv10025344
SamplesNA20339, NA18486, HG03572, HG03436, NA19023, NA18498, NA19041, NA19385, NA19026, NA19002, NA19189, HG03058, HG03369, NA19347, HG03547, HG03301, NA19031, NA18912, NA19017, HG02613, HG03437, NA19454, HG03458, NA19380, HG03469, HG02941, NA19323, HG03112, HG03401, HG02763, HG02855, NA19312, NA19463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586874
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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