A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592177



Internal ID6979504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120379630..120383129hg38UCSC Ensembl
Innerchr2:120379630..120383129hg38UCSC Ensembl
Outerchr2:120379130..120383629hg38UCSC Ensembl
chr2:121137206..121140705hg19UCSC Ensembl
Innerchr2:121137206..121140705hg19UCSC Ensembl
Outerchr2:121136706..121141205hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10641104, essv10641123, essv10641116, essv10641111, essv10641106, essv10641117, essv10641110, essv10641119, essv10641122, essv10641129, essv10641126, essv10641113, essv10641108, essv10641125, essv10641109, essv10641121, essv10641105, essv10641128, essv10641112, essv10641127, essv10641107, essv10641120, essv10641130, essv10641115, essv10641114, essv10641118, essv10641124
SamplesNA12843, NA12045, HG00367, NA12004, HG00341, HG00330, HG00369, HG00334, NA12005, HG03826, HG00379, NA11932, HG03744, HG00323, HG00349, HG00380, HG00332, HG00321, NA12778, NA20778, HG00319, HG00378, HG00329, NA12749, HG00267, HG00343, NA12776
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592177
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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