A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695548



Internal ID13700888
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 Flag1
Merged StatusS
Merged Variantsesv3432947
Supporting Variants
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)essv8695548
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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