A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11552912



Internal ID1720199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:105466191..105468075hg38UCSC Ensembl
Innerchr4:105466191..105468075hg38UCSC Ensembl
Outerchr4:105466029..105468221hg38UCSC Ensembl
chr4:106387348..106389232hg19UCSC Ensembl
Innerchr4:106387348..106389232hg19UCSC Ensembl
Outerchr4:106387186..106389378hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381885
hg191885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601663
Supporting Variants
SamplesHG01598
Known GenesPPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11552912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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