A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364875



Internal ID14865135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43815963..43815982hg38UCSC Ensembl
Innerchr2:43815959..43815986hg38UCSC Ensembl
Outerchr2:43815940..43816005hg38UCSC Ensembl
chr2:44043102..44043121hg19UCSC Ensembl
Innerchr2:44043098..44043125hg19UCSC Ensembl
Outerchr2:44043079..44043144hg19UCSC Ensembl
chr2:43896606..43896625hg18UCSC Ensembl
Innerchr2:43896629..43896602hg18UCSC Ensembl
Outerchr2:43896583..43896648hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9601202
SamplesNA11881
Known GenesABCG5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364875
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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