A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11883350



Internal ID1885166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42628316..42631028hg38UCSC Ensembl
Innerchr5:42628366..42630978hg38UCSC Ensembl
Outerchr5:42628090..42631254hg38UCSC Ensembl
chr5:42628418..42631130hg19UCSC Ensembl
Innerchr5:42628468..42631080hg19UCSC Ensembl
Outerchr5:42628192..42631356hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382713
hg192713
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604875
Supporting Variants
SamplesNA12383
Known GenesGHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11883350
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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