A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602587



Internal ID6989620
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11646154, essv11646153
SamplesNA21124, NA18615
Known GenesTTC29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602587
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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