A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14702961



Internal ID6041943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39619488..39620481hg38UCSC Ensembl
Innerchr13:39619488..39620481hg38UCSC Ensembl
Outerchr13:39619329..39620654hg38UCSC Ensembl
chr13:40193625..40194618hg19UCSC Ensembl
Innerchr13:40193625..40194618hg19UCSC Ensembl
Outerchr13:40193466..40194791hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631836
Supporting Variants
SamplesNA19443
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14702961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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