A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16070987



Internal ID6072803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47070055..47070982hg38UCSC Ensembl
Innerchr19:47070058..47070980hg38UCSC Ensembl
Outerchr19:47070053..47070985hg38UCSC Ensembl
chr19:47573312..47574239hg19UCSC Ensembl
Innerchr19:47573315..47574237hg19UCSC Ensembl
Outerchr19:47573310..47574242hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38928
hg19928
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644544
Supporting Variants
SamplesNA19102
Known GenesZC3H4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16070987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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