A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075828



Internal ID2077644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138400313..138409694hg38UCSC Ensembl
chr5:137736002..137745383hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg389382
hg199382
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606922
Supporting Variants
SamplesHG02232
Known GenesKDM3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075828
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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