A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599428



Internal ID6986475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3444025..3448226hg38UCSC Ensembl
Innerchr4:3444069..3448182hg38UCSC Ensembl
Outerchr4:3443981..3448270hg38UCSC Ensembl
chr4:3445752..3449953hg19UCSC Ensembl
Innerchr4:3445796..3449909hg19UCSC Ensembl
Outerchr4:3445708..3449997hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384202
hg194202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317510, essv11317511, essv11317517, essv11317512, essv11317518, essv11317514, essv11317515, essv11317522, essv11317513, essv11317521, essv11317520, essv11317516, essv11317519
SamplesNA21097, HG01052, HG00737, NA19764, HG01080, NA20518, HG04047, HG01497, HG04200, HG00382, HG03778, NA20544, NA12347
Known GenesHGFAC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599428
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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