A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594010



Internal ID6634287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203263105..203264854hg38UCSC Ensembl
Innerchr2:203263147..203264813hg38UCSC Ensembl
Outerchr2:203263064..203264896hg38UCSC Ensembl
chr2:204127828..204129577hg19UCSC Ensembl
Innerchr2:204127870..204129536hg19UCSC Ensembl
Outerchr2:204127787..204129619hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10825278, essv10825289, essv10825287, essv10825286, essv10825279, essv10825292, essv10825285, essv10825288, essv10825282, essv10825281, essv10825291, essv10825283, essv10825284, essv10825293, essv10825280, essv10825290
SamplesHG03351, HG02887, HG03048, HG02760, HG01525, HG03130, HG03024, HG00243, HG03195, HG01989, NA19206, HG02771, NA18878, HG03157, HG02464, HG02282
Known GenesCYP20A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594010
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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