A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5522494



Internal ID9740073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55613850..55616156hg38UCSC Ensembl
Outerchr19:55613479..55616526hg38UCSC Ensembl
Innerchr19:56125216..56127522hg19UCSC Ensembl
Outerchr19:56124845..56127892hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658464
Supporting Variants
SamplesNA19675
Known GenesZNF865
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5522494
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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