A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11505838



Internal ID1507654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75640087..75644148hg38UCSC Ensembl
Innerchr4:75640087..75644148hg38UCSC Ensembl
Outerchr4:75639860..75644313hg38UCSC Ensembl
chr4:76565271..76569332hg19UCSC Ensembl
Innerchr4:76565271..76569332hg19UCSC Ensembl
Outerchr4:76565044..76569497hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg384062
hg194062
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601033
Supporting Variants
SamplesHG00182
Known GenesG3BP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11505838
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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