A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545330



Internal ID5547146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83210052..83211135hg38UCSC Ensembl
Innerchr16:83210052..83211135hg38UCSC Ensembl
Outerchr16:83209742..83211388hg38UCSC Ensembl
chr16:83243657..83244740hg19UCSC Ensembl
Innerchr16:83243657..83244740hg19UCSC Ensembl
Outerchr16:83243347..83244993hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639386
Supporting Variants
SamplesHG00288
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545330
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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