A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12143377



Internal ID2145193
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607687
Supporting Variants
SamplesNA19913
Known GenesNSD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12143377
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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