A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342425



Internal ID14842693
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 StatusM
Merged Variants
Supporting Variantsessv8652371
SamplesNA19240
Known GenesCLIP2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342425
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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