A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429344



Internal ID15276300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5509269..5510767hg38UCSC Ensembl
Innerchr2:5509767..5510269hg38UCSC Ensembl
Outerchr2:5508269..5511767hg38UCSC Ensembl
chr2:5649401..5650899hg19UCSC Ensembl
Innerchr2:5649899..5650401hg19UCSC Ensembl
Outerchr2:5648401..5651899hg19UCSC Ensembl
chr2:5566852..5568350hg18UCSC Ensembl
Innerchr2:5567852..5567350hg18UCSC Ensembl
Outerchr2:5565852..5569350hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2050e59
Supporting Variantsessv8693660
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429344
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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