A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11494444



Internal ID1496260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70689117..70699181hg38UCSC Ensembl
chr4:71554834..71564898hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3810065
hg1910065
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600939
Supporting Variants
SamplesHG02888
Known GenesUTP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11494444
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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