A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12064690



Internal ID2066506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132860904..132910818hg38UCSC Ensembl
chr5:132196596..132246510hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3849915
hg1949915
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606811
Supporting Variants
SamplesHG01950
Known GenesAFF4, GDF9, LEAP2, UQCRQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12064690
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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