A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11717669



Internal ID2781177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175738884..175742149hg38UCSC Ensembl
Innerchr4:175738918..175742116hg38UCSC Ensembl
Outerchr4:175738851..175742183hg38UCSC Ensembl
chr4:176660035..176663300hg19UCSC Ensembl
Innerchr4:176660069..176663267hg19UCSC Ensembl
Outerchr4:176660002..176663334hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg383266
hg193266
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603265
Supporting Variants
SamplesHG02455
Known GenesGPM6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11717669
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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