A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11868710



Internal ID1870526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36613042..36726748hg38UCSC Ensembl
chr5:36613144..36726850hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38113707
hg19113707
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604724
Supporting Variants
SamplesNA12717
Known GenesSLC1A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11868710
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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