A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11711978



Internal ID1051800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174704016..174705823hg38UCSC Ensembl
Innerchr4:174704016..174705823hg38UCSC Ensembl
Outerchr4:174704016..174705823hg38UCSC Ensembl
chr4:175625167..175626974hg19UCSC Ensembl
Innerchr4:175625167..175626974hg19UCSC Ensembl
Outerchr4:175625167..175626974hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg381808
hg191808
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603234
Supporting Variants
SamplesHG00674
Known GenesGLRA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11711978
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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