A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864349



Internal ID12970120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87115611..87115625hg38UCSC Ensembl
Innerchr4:87115613..87115623hg38UCSC Ensembl
Outerchr4:87115609..87115627hg38UCSC Ensembl
chr4:88036763..88036777hg19UCSC Ensembl
Innerchr4:88036765..88036775hg19UCSC Ensembl
Outerchr4:88036761..88036779hg19UCSC Ensembl
chr4:88255787..88255801hg18UCSC Ensembl
Innerchr4:88255789..88255799hg18UCSC Ensembl
Outerchr4:88255785..88255803hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328451
Supporting Variants
SamplesNA12005
Known GenesAFF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864349
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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