A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16052200



Internal ID2755015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38730649..38733019hg38UCSC Ensembl
Innerchr19:38730665..38733004hg38UCSC Ensembl
Outerchr19:38730634..38733035hg38UCSC Ensembl
chr19:39221289..39223659hg19UCSC Ensembl
Innerchr19:39221305..39223644hg19UCSC Ensembl
Outerchr19:39221274..39223675hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382371
hg192371
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644310
Supporting Variants
SamplesHG02425
Known GenesCAPN12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16052200
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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