A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11528391



Internal ID1530207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88077684..88081149hg38UCSC Ensembl
Innerchr4:88077684..88081149hg38UCSC Ensembl
Outerchr4:88077407..88081423hg38UCSC Ensembl
chr4:88998836..89002301hg19UCSC Ensembl
Innerchr4:88998836..89002301hg19UCSC Ensembl
Outerchr4:88998559..89002575hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383466
hg193466
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601295
Supporting Variants
SamplesHG00309
Known GenesPKD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11528391
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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