A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871735



Internal ID1873551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38395532..38507296hg38UCSC Ensembl
chr5:38395634..38507398hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38111765
hg19111765
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604768
Supporting Variants
SamplesNA19900
Known GenesEGFLAM, EGFLAM-AS2, LIFR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871735
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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