A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15496299



Internal ID4978058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61876313..61880448hg38UCSC Ensembl
Innerchr16:61876313..61880448hg38UCSC Ensembl
Outerchr16:61876185..61880583hg38UCSC Ensembl
chr16:61910217..61914352hg19UCSC Ensembl
Innerchr16:61910217..61914352hg19UCSC Ensembl
Outerchr16:61910089..61914487hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg384136
hg194136
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638785
Supporting Variants
SamplesNA12889
Known GenesCDH8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15496299
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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