A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11317526



Internal ID1319342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3444970..3450219hg38UCSC Ensembl
chr4:3446697..3451946hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg385250
hg195250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599429
Supporting Variants
SamplesNA20518
Known GenesHGFAC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11317526
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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