A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14688367



Internal ID6884099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:34984496..34990745hg38UCSC Ensembl
Innerchr13:34984497..34990745hg38UCSC Ensembl
Outerchr13:34984496..34990746hg38UCSC Ensembl
chr13:35558633..35564882hg19UCSC Ensembl
Innerchr13:35558634..35564882hg19UCSC Ensembl
Outerchr13:35558633..35564883hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg386250
hg196250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631757
Supporting Variants
SamplesNA21103
Known GenesNBEA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14688367
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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