A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607518



Internal ID6994450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167297385..167302772hg38UCSC Ensembl
Innerchr5:167297385..167302772hg38UCSC Ensembl
Outerchr5:167297063..167303068hg38UCSC Ensembl
chr5:166724390..166729777hg19UCSC Ensembl
Innerchr5:166724390..166729777hg19UCSC Ensembl
Outerchr5:166724068..166730073hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385388
hg195388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12126264, essv12126263, essv12126262
SamplesNA18561, HG03616, NA18557
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607518
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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