A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449533



Internal ID14949795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110168407..110168417hg38UCSC Ensembl
Innerchr2:110168409..110168415hg38UCSC Ensembl
Outerchr2:110168405..110168419hg38UCSC Ensembl
chr2:110925984..110925994hg19UCSC Ensembl
Innerchr2:110925986..110925992hg19UCSC Ensembl
Outerchr2:110925982..110925996hg19UCSC Ensembl
chr2:110283273..110283283hg18UCSC Ensembl
Innerchr2:110283275..110283281hg18UCSC Ensembl
Outerchr2:110283271..110283285hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863991
SamplesNA12005
Known GenesNPHP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449533
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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