A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605121



Internal ID6992149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56598434..56602185hg38UCSC Ensembl
Innerchr5:56598467..56602153hg38UCSC Ensembl
Outerchr5:56598402..56602218hg38UCSC Ensembl
chr5:55894261..55898012hg19UCSC Ensembl
Innerchr5:55894294..55897980hg19UCSC Ensembl
Outerchr5:55894229..55898045hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383752
hg193752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11912170
SamplesHG02784
Known GenesLOC101928448
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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