A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782205



Internal ID4172025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67706785..67710614hg38UCSC Ensembl
Innerchr13:67706811..67710589hg38UCSC Ensembl
Outerchr13:67706760..67710640hg38UCSC Ensembl
chr13:68280917..68284746hg19UCSC Ensembl
Innerchr13:68280943..68284721hg19UCSC Ensembl
Outerchr13:68280892..68284772hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg383830
hg193830
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632564
Supporting Variants
SamplesHG03772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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