A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695525



Internal ID15093924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:136972465..136973763hg38UCSC Ensembl
Innerchr7:136972763..136973465hg38UCSC Ensembl
Outerchr7:136971465..136974763hg38UCSC Ensembl
chr7:136657212..136658510hg19UCSC Ensembl
Innerchr7:136657510..136658212hg19UCSC Ensembl
Outerchr7:136656212..136659510hg19UCSC Ensembl
chr7:136307752..136309050hg18UCSC Ensembl
Innerchr7:136308752..136308050hg18UCSC Ensembl
Outerchr7:136306752..136310050hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390664
Supporting Variants
SamplesNA19240
Known GenesCHRM2, LOC349160
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695525
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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