A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14657530



Internal ID4659346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19858431..19860088hg38UCSC Ensembl
Innerchr13:19858479..19860041hg38UCSC Ensembl
Outerchr13:19858384..19860136hg38UCSC Ensembl
chr13:20432571..20434228hg19UCSC Ensembl
Innerchr13:20432619..20434181hg19UCSC Ensembl
Outerchr13:20432524..20434276hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381658
hg191658
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631407
Supporting Variants
SamplesHG02784
Known GenesZMYM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14657530
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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