A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401081



Internal ID14901358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44749428..44751526hg38UCSC Ensembl
Innerchr7:44750428..44750526hg38UCSC Ensembl
Outerchr7:44748428..44752526hg38UCSC Ensembl
chr7:44789027..44791125hg19UCSC Ensembl
Innerchr7:44790027..44790125hg19UCSC Ensembl
Outerchr7:44788027..44792125hg19UCSC Ensembl
chr7:44755552..44757650hg18UCSC Ensembl
Innerchr7:44756552..44756650hg18UCSC Ensembl
Outerchr7:44754552..44758650hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695795
SamplesNA19239
Known GenesZMIZ2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401081
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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