A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607687



Internal ID6647927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177164699..177173840hg38UCSC Ensembl
Innerchr5:177165199..177173340hg38UCSC Ensembl
Outerchr5:177163699..177174840hg38UCSC Ensembl
chr5:176591700..176600841hg19UCSC Ensembl
Innerchr5:176592200..176600341hg19UCSC Ensembl
Outerchr5:176590700..176601841hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg389142
hg199142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12143377, essv12143376, essv12143375
SamplesNA19913, NA19904, NA19703
Known GenesNSD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607687
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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