A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607756



Internal ID6647995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179915029..179917317hg38UCSC Ensembl
Innerchr5:179915029..179917317hg38UCSC Ensembl
Outerchr5:179914743..179917633hg38UCSC Ensembl
chr5:179342029..179344317hg19UCSC Ensembl
Innerchr5:179342029..179344317hg19UCSC Ensembl
Outerchr5:179341743..179344633hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382289
hg192289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150885, essv12150877, essv12150883, essv12150878, essv12150881, essv12150879, essv12150882, essv12150886, essv12150876, essv12150884, essv12150880
SamplesNA19355, HG03086, HG02561, HG01198, HG01121, HG02819, NA19908, HG00145, HG01768, HG00274, HG02805
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607756
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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