A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424175



Internal ID14924446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46371503..46371522hg38UCSC Ensembl
Innerchr3:46371499..46371526hg38UCSC Ensembl
Outerchr3:46371480..46371545hg38UCSC Ensembl
chr3:46412994..46413013hg19UCSC Ensembl
Innerchr3:46412990..46413017hg19UCSC Ensembl
Outerchr3:46412971..46413036hg19UCSC Ensembl
chr3:46387998..46388017hg18UCSC Ensembl
Innerchr3:46388021..46387994hg18UCSC Ensembl
Outerchr3:46387975..46388040hg18UCSC Ensembl
Cytoband3p21.31
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 Variantsessv9609424
SamplesNA11840
Known GenesCCR5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424175
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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