A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11530393



Internal ID2320696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:90154226..90168823hg38UCSC Ensembl
Innerchr4:90154376..90168673hg38UCSC Ensembl
Outerchr4:90154076..90168973hg38UCSC Ensembl
chr4:91075377..91089974hg19UCSC Ensembl
Innerchr4:91075527..91089824hg19UCSC Ensembl
Outerchr4:91075227..91090124hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3814598
hg1914598
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601335
Supporting Variants
SamplesHG02067
Known GenesCCSER1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11530393
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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