A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871732



Internal ID1873548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38221565..38446015hg38UCSC Ensembl
chr5:38221667..38446117hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38224451
hg19224451
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604766
Supporting Variants
SamplesNA12717
Known GenesEGFLAM, EGFLAM-AS2, EGFLAM-AS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871732
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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