A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11430697



Internal ID3329221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:51936318..51948897hg38UCSC Ensembl
Innerchr4:51936318..51948897hg38UCSC Ensembl
Outerchr4:51935818..51949397hg38UCSC Ensembl
chr4:52802484..52815063hg19UCSC Ensembl
Innerchr4:52802484..52815063hg19UCSC Ensembl
Outerchr4:52801984..52815563hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812580
hg1912580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600484
Supporting Variants
SamplesHG02974
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11430697
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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