A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11637606



Internal ID1639422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143377287..143378637hg38UCSC Ensembl
Innerchr4:143377310..143378615hg38UCSC Ensembl
Outerchr4:143377265..143378660hg38UCSC Ensembl
chr4:144298440..144299790hg19UCSC Ensembl
Innerchr4:144298463..144299768hg19UCSC Ensembl
Outerchr4:144298418..144299813hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602506
Supporting Variants
SamplesHG01670
Known GenesGAB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11637606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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