A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15734071



Internal ID912209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71128093..71137906hg38UCSC Ensembl
Innerchr17:71128121..71137878hg38UCSC Ensembl
Outerchr17:71128065..71137934hg38UCSC Ensembl
chr17:69124234..69134047hg19UCSC Ensembl
Innerchr17:69124262..69134019hg19UCSC Ensembl
Outerchr17:69124206..69134075hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg389814
hg199814
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641169
Supporting Variants
SamplesHG00536
Known GenesCASC17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15734071
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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