A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11396522



Internal ID5221150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38202932..38204122hg38UCSC Ensembl
Innerchr4:38202933..38204121hg38UCSC Ensembl
Outerchr4:38202931..38204123hg38UCSC Ensembl
chr4:38204553..38205743hg19UCSC Ensembl
Innerchr4:38204554..38205742hg19UCSC Ensembl
Outerchr4:38204552..38205744hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381191
hg191191
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600256
Supporting Variants
SamplesNA18622
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11396522
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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