A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6208166



Internal ID9185569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140373305..140377628hg38UCSC Ensembl
Outerchr5:140373148..140377781hg38UCSC Ensembl
Innerchr5:139752890..139757213hg19UCSC Ensembl
Outerchr5:139752733..139757366hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384634
hg194634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659425
Supporting Variants
SamplesHG00531
Known GenesSLC4A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6208166
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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