A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607669



Internal ID6994601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176333785..176337170hg38UCSC Ensembl
Innerchr5:176333785..176337170hg38UCSC Ensembl
Outerchr5:176333662..176337326hg38UCSC Ensembl
chr5:175760788..175764173hg19UCSC Ensembl
Innerchr5:175760788..175764173hg19UCSC Ensembl
Outerchr5:175760665..175764329hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383386
hg193386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12142296
SamplesHG01204
Known GenesSIMC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607669
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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