A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14763682



Internal ID4112230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:61132230..61142890hg38UCSC Ensembl
Innerchr13:61132247..61142873hg38UCSC Ensembl
Outerchr13:61132213..61142907hg38UCSC Ensembl
chr13:61706364..61717024hg19UCSC Ensembl
Innerchr13:61706381..61717007hg19UCSC Ensembl
Outerchr13:61706347..61717041hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3810661
hg1910661
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632328
Supporting Variants
SamplesHG03731
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14763682
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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