A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605824



Internal ID6646068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94986528..94989597hg38UCSC Ensembl
Innerchr5:94986528..94989597hg38UCSC Ensembl
Outerchr5:94986386..94989752hg38UCSC Ensembl
chr5:94322232..94325301hg19UCSC Ensembl
Innerchr5:94322232..94325301hg19UCSC Ensembl
Outerchr5:94322090..94325456hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg383070
hg193070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11981569
SamplesNA18538
Known GenesMCTP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605824
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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