A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14688581



Internal ID821195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35430360..35467605hg38UCSC Ensembl
Innerchr13:35430860..35467105hg38UCSC Ensembl
Outerchr13:35429360..35468605hg38UCSC Ensembl
chr13:36004497..36041742hg19UCSC Ensembl
Innerchr13:36004997..36041242hg19UCSC Ensembl
Outerchr13:36003497..36042742hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3837246
hg1937246
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631765
Supporting Variants
SamplesHG00407
Known GenesNBEA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14688581
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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