A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603878



Internal ID6990909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4524090..4528401hg38UCSC Ensembl
chr5:4524203..4528514hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg384312
hg194312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11794564, essv11794570, essv11794562, essv11794565, essv11794567, essv11794568, essv11794563, essv11794569, essv11794566
SamplesHG03449, HG03298, NA19819, HG03455, HG03464, HG02439, HG03461, HG01915, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603878
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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