A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602175



Internal ID6989209
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11597581, essv11597584, essv11597580, essv11597582, essv11597585, essv11597583
SamplesHG00096, NA18988, HG00379, NA20819, HG01619, HG00123
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602175
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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