A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075699



Internal ID2077515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137917640..137950572hg38UCSC Ensembl
chr5:137253329..137286261hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3832933
hg1932933
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606915
Supporting Variants
SamplesHG00513
Known GenesFAM13B, PKD2L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075699
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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