A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417422



Internal ID15264380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37982035..37982054hg38UCSC Ensembl
Innerchr1:37982031..37982058hg38UCSC Ensembl
Outerchr1:37982012..37982077hg38UCSC Ensembl
chr1:38447707..38447726hg19UCSC Ensembl
Innerchr1:38447703..38447730hg19UCSC Ensembl
Outerchr1:38447684..38447749hg19UCSC Ensembl
chr1:38220294..38220313hg18UCSC Ensembl
Innerchr1:38220317..38220290hg18UCSC Ensembl
Outerchr1:38220271..38220336hg18UCSC Ensembl
Cytoband1p34.3
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 Variantsessv9593957
SamplesNA12815
Known GenesSF3A3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417422
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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