A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16219882



Internal ID6043852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61454236..61685901hg38UCSC Ensembl
Innerchr20:61454251..61685886hg38UCSC Ensembl
Outerchr20:61454221..61685916hg38UCSC Ensembl
chr20:60029292..60260957hg19UCSC Ensembl
Innerchr20:60029307..60260942hg19UCSC Ensembl
Outerchr20:60029277..60260972hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38231666
hg19231666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646265
Supporting Variants
SamplesNA19445
Known GenesCDH4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16219882
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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