A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594330



Internal ID6634606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218142447..218226633hg38UCSC Ensembl
Innerchr2:218142597..218226483hg38UCSC Ensembl
Outerchr2:218142297..218226783hg38UCSC Ensembl
chr2:219007170..219091356hg19UCSC Ensembl
Innerchr2:219007320..219091206hg19UCSC Ensembl
Outerchr2:219007020..219091506hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3884187
hg1984187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10850360
SamplesHG03722
Known GenesARPC2, CXCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594330
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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