A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11731991



Internal ID2515439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182648852..182650845hg38UCSC Ensembl
Innerchr4:182648852..182650845hg38UCSC Ensembl
Outerchr4:182648811..182650998hg38UCSC Ensembl
chr4:183570005..183571998hg19UCSC Ensembl
Innerchr4:183570005..183571998hg19UCSC Ensembl
Outerchr4:183569964..183572151hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381994
hg191994
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603426
Supporting Variants
SamplesHG02232
Known GenesTENM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11731991
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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