A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665471



Internal ID9931576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102858584..102861801hg38UCSC Ensembl
Outerchr4:102858427..102861954hg38UCSC Ensembl
Innerchr4:103779741..103782958hg19UCSC Ensembl
Outerchr4:103779584..103783111hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg383528
hg193528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv965e199
Supporting Variantsessv5950367, essv5755929, essv6322407, essv6414244, essv6309895, essv5425593, essv5659092
SamplesNA20795, NA19782, HG00253, NA20530, HG00259, NA12830, NA11843
Known GenesUBE2D3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665471
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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