A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450361



Internal ID14950623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7838380..7838456hg38UCSC Ensembl
Innerchr17:7838380..7838456hg38UCSC Ensembl
Outerchr17:7836345..7840008hg38UCSC Ensembl
chr17:7741698..7741774hg19UCSC Ensembl
Innerchr17:7741698..7741774hg19UCSC Ensembl
Outerchr17:7739663..7743326hg19UCSC Ensembl
chr17:7682423..7682499hg18UCSC Ensembl
Innerchr17:7682423..7682499hg18UCSC Ensembl
Outerchr17:7680388..7684051hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3877
hg1977
hg1877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651979
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450361
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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