A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14657999



Internal ID4659815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20147770..20180246hg38UCSC Ensembl
chr13:20721909..20754385hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3832477
hg1932477
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631422
Supporting Variants
SamplesHG02855
Known GenesGJA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14657999
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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