A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11494741



Internal ID4962212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71423966..71427700hg38UCSC Ensembl
Innerchr4:71423971..71427695hg38UCSC Ensembl
Outerchr4:71423961..71427705hg38UCSC Ensembl
chr4:72289683..72293417hg19UCSC Ensembl
Innerchr4:72289688..72293412hg19UCSC Ensembl
Outerchr4:72289678..72293422hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg383735
hg193735
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600949
Supporting Variants
SamplesNA12842
Known GenesSLC4A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11494741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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