A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11946117



Internal ID1947933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76225916..76275755hg38UCSC Ensembl
Innerchr5:76225926..76275745hg38UCSC Ensembl
Outerchr5:76225906..76275765hg38UCSC Ensembl
chr5:75521741..75571580hg19UCSC Ensembl
Innerchr5:75521751..75571570hg19UCSC Ensembl
Outerchr5:75521731..75571590hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3849840
hg1949840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605461
Supporting Variants
SamplesHG03583
Known GenesSV2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11946117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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