A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449855



Internal ID15296803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30887037..30887056hg38UCSC Ensembl
Innerchr2:30887033..30887060hg38UCSC Ensembl
Outerchr2:30887014..30887079hg38UCSC Ensembl
chr2:31109903..31109922hg19UCSC Ensembl
Innerchr2:31109899..31109926hg19UCSC Ensembl
Outerchr2:31109880..31109945hg19UCSC Ensembl
chr2:30963407..30963426hg18UCSC Ensembl
Innerchr2:30963430..30963403hg18UCSC Ensembl
Outerchr2:30963384..30963449hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9600591
SamplesNA11931
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449855
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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