A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14692199



Internal ID1845317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36840314..36840642hg38UCSC Ensembl
Innerchr13:36840314..36840642hg38UCSC Ensembl
Outerchr13:36840314..36840642hg38UCSC Ensembl
chr13:37414451..37414779hg19UCSC Ensembl
Innerchr13:37414451..37414779hg19UCSC Ensembl
Outerchr13:37414451..37414779hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631787
Supporting Variants
SamplesHG01709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14692199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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