A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14875941



Internal ID1159406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100553176..100556514hg38UCSC Ensembl
Innerchr13:100553176..100556514hg38UCSC Ensembl
Outerchr13:100552805..100556750hg38UCSC Ensembl
chr13:101205430..101208768hg19UCSC Ensembl
Innerchr13:101205430..101208768hg19UCSC Ensembl
Outerchr13:101205059..101209004hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg383339
hg193339
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633347
Supporting Variants
SamplesHG01046
Known GenesGGACT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14875941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer