A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11597581



Internal ID413143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129140921..129147858hg38UCSC Ensembl
Innerchr4:129140921..129147858hg38UCSC Ensembl
Outerchr4:129140837..129147946hg38UCSC Ensembl
chr4:130062076..130069013hg19UCSC Ensembl
Innerchr4:130062076..130069013hg19UCSC Ensembl
Outerchr4:130061992..130069101hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg386938
hg196938
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602175
Supporting Variants
SamplesHG00123
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11597581
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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