A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16048998



Internal ID6050814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36349850..36356172hg38UCSC Ensembl
Innerchr19:36349850..36356172hg38UCSC Ensembl
Outerchr19:36349850..36356172hg38UCSC Ensembl
chr19:36840752..36847074hg19UCSC Ensembl
Innerchr19:36840752..36847074hg19UCSC Ensembl
Outerchr19:36840752..36847074hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg386323
hg196323
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644255
Supporting Variants
SamplesHG01810
Known GenesZFP14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16048998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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