A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600955



Internal ID6987994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71651804..71654740hg38UCSC Ensembl
Innerchr4:71651804..71654740hg38UCSC Ensembl
Outerchr4:71651540..71655001hg38UCSC Ensembl
chr4:72517521..72520457hg19UCSC Ensembl
Innerchr4:72517521..72520457hg19UCSC Ensembl
Outerchr4:72517257..72520718hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382937
hg192937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11494764, essv11494765, essv11494759, essv11494761, essv11494763, essv11494762, essv11494766, essv11494760
SamplesHG01351, NA11831, NA20858, HG03928, HG01777, HG01615, NA12873, NA20503
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600955
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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