A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14657611



Internal ID5905413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19982236..19982778hg38UCSC Ensembl
Innerchr13:19982268..19982746hg38UCSC Ensembl
Outerchr13:19982204..19982810hg38UCSC Ensembl
chr13:20556376..20556918hg19UCSC Ensembl
Innerchr13:20556408..20556886hg19UCSC Ensembl
Outerchr13:20556344..20556950hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631415
Supporting Variants
SamplesNA19320
Known GenesZMYM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14657611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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