A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15731887



Internal ID406368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70134538..70135269hg38UCSC Ensembl
Innerchr17:70134588..70135219hg38UCSC Ensembl
Outerchr17:70134488..70135319hg38UCSC Ensembl
chr17:68130679..68131410hg19UCSC Ensembl
Innerchr17:68130729..68131360hg19UCSC Ensembl
Outerchr17:68130629..68131460hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641144
Supporting Variants
SamplesHG00120
Known GenesKCNJ16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15731887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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