A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11457298



Internal ID6907992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62579966..62605490hg38UCSC Ensembl
Innerchr4:62579966..62605490hg38UCSC Ensembl
Outerchr4:62579466..62605990hg38UCSC Ensembl
chr4:63445684..63471208hg19UCSC Ensembl
Innerchr4:63445684..63471208hg19UCSC Ensembl
Outerchr4:63445184..63471708hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3825525
hg1925525
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600707
Supporting Variants
SamplesNA21112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11457298
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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