A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11646154



Internal ID6936234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146944324..146945543hg38UCSC Ensembl
Innerchr4:146944324..146945543hg38UCSC Ensembl
Outerchr4:146944187..146945693hg38UCSC Ensembl
chr4:147865476..147866695hg19UCSC Ensembl
Innerchr4:147865476..147866695hg19UCSC Ensembl
Outerchr4:147865339..147866845hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602587
Supporting Variants
SamplesNA21124
Known GenesTTC29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11646154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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