A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432947



Internal ID15279903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144190126..144377324hg38UCSC Ensembl
Innerchr7:144191126..144376324hg38UCSC Ensembl
Outerchr7:144189126..144378324hg38UCSC Ensembl
chr7:143887219..144074417hg19UCSC Ensembl
Innerchr7:143888219..144073417hg19UCSC Ensembl
Outerchr7:143886219..144075417hg19UCSC Ensembl
chr7:143518152..143705350hg18UCSC Ensembl
Innerchr7:143519152..143704350hg18UCSC Ensembl
Outerchr7:143517152..143706350hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38187199
hg19187199
hg18187199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695548
SamplesNA12891
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432947
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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