A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590126



Internal ID6977455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26670621..26672173hg38UCSC Ensembl
Innerchr2:26670655..26672139hg38UCSC Ensembl
Outerchr2:26670587..26672207hg38UCSC Ensembl
chr2:26893489..26895041hg19UCSC Ensembl
Innerchr2:26893523..26895007hg19UCSC Ensembl
Outerchr2:26893455..26895075hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381553
hg191553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10434764, essv10434767, essv10434762, essv10434765, essv10434763, essv10434766
SamplesNA18881, NA18878, NA19137, HG03088, HG01989, HG01075
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590126
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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