A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11545230



Internal ID5270683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101964323..101980487hg38UCSC Ensembl
Innerchr4:101964323..101980487hg38UCSC Ensembl
Outerchr4:101963823..101980987hg38UCSC Ensembl
chr4:102885480..102901644hg19UCSC Ensembl
Innerchr4:102885480..102901644hg19UCSC Ensembl
Outerchr4:102884980..102902144hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3816165
hg1916165
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601608
Supporting Variants
SamplesNA18642
Known GenesBANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11545230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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