A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11521116



Internal ID1338104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82971204..82975207hg38UCSC Ensembl
Innerchr4:82971204..82975207hg38UCSC Ensembl
Outerchr4:82971052..82975350hg38UCSC Ensembl
chr4:83892357..83896360hg19UCSC Ensembl
Innerchr4:83892357..83896360hg19UCSC Ensembl
Outerchr4:83892205..83896503hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg384004
hg194004
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601186
Supporting Variants
SamplesHG01177
Known GenesLIN54
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11521116
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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