A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11946127



Internal ID1947943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76416473..76420740hg38UCSC Ensembl
Innerchr5:76416477..76420737hg38UCSC Ensembl
Outerchr5:76416470..76420744hg38UCSC Ensembl
chr5:75712298..75716565hg19UCSC Ensembl
Innerchr5:75712302..75716562hg19UCSC Ensembl
Outerchr5:75712295..75716569hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384268
hg194268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605466
Supporting Variants
SamplesHG02026
Known GenesIQGAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11946127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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