A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14669923



Internal ID3059855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:23934716..23937572hg38UCSC Ensembl
Innerchr13:23934726..23937563hg38UCSC Ensembl
Outerchr13:23934707..23937582hg38UCSC Ensembl
chr13:24508855..24511711hg19UCSC Ensembl
Innerchr13:24508865..24511702hg19UCSC Ensembl
Outerchr13:24508846..24511721hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg382857
hg192857
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631538
Supporting Variants
SamplesHG02688
Known GenesANKRD20A19P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14669923
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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