A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604944



Internal ID6991972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45191773..45213411hg38UCSC Ensembl
Innerchr5:45191786..45213398hg38UCSC Ensembl
Outerchr5:45191760..45213424hg38UCSC Ensembl
chr5:45191875..45213513hg19UCSC Ensembl
Innerchr5:45191888..45213500hg19UCSC Ensembl
Outerchr5:45191862..45213526hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3821639
hg1921639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1099e214
Supporting Variantsessv11890989, essv11890987, essv11890990, essv11890985, essv11890986, essv11890991, essv11890984, essv11890988
SamplesNA19332, HG03298, NA18878, NA19189, HG03225, HG03136, HG01883, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604944
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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