A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11528390



Internal ID1530206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88027250..88028474hg38UCSC Ensembl
Innerchr4:88027250..88028474hg38UCSC Ensembl
Outerchr4:88027036..88028717hg38UCSC Ensembl
chr4:88948402..88949626hg19UCSC Ensembl
Innerchr4:88948402..88949626hg19UCSC Ensembl
Outerchr4:88948188..88949869hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381225
hg191225
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601294
Supporting Variants
SamplesNA19190
Known GenesPKD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11528390
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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