A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11253014



Internal ID1254830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183138992..183204950hg38UCSC Ensembl
chr3:182856780..182922738hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3865959
hg1965959
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598921
Supporting Variants
SamplesNA19390
Known GenesLAMP3, MCF2L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11253014
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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