A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652371



Internal ID14756597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74356784..74357208hg38UCSC Ensembl
Innerchr7:74356784..74357208hg38UCSC Ensembl
Outerchr7:74356733..74357436hg38UCSC Ensembl
chr7:73771114..73771538hg19UCSC Ensembl
Innerchr7:73771114..73771538hg19UCSC Ensembl
Outerchr7:73771063..73771766hg19UCSC Ensembl
chr7:73409050..73409474hg18UCSC Ensembl
Innerchr7:73409050..73409474hg18UCSC Ensembl
Outerchr7:73408999..73409702hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38425
hg19425
hg18425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342425
Supporting Variants
SamplesNA19240
Known GenesCLIP2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652371
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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