A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599429



Internal ID6639693
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317527, essv11317526, essv11317524, essv11317525, essv11317523
SamplesNA20518, HG01596, HG04200, NA20544, NA12347
Known GenesHGFAC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599429
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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