A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14537986



Internal ID4539802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75343348..75376039hg38UCSC Ensembl
chr12:75737128..75769819hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3832692
hg1932692
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630011
Supporting Variants
SamplesNA19236
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14537986
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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