A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6096888



Internal ID9074291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7928998..7931804hg38UCSC Ensembl
Outerchr17:7928627..7932174hg38UCSC Ensembl
Innerchr17:7832316..7835122hg19UCSC Ensembl
Outerchr17:7831945..7835492hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670156
Supporting Variants
SamplesHG00403
Known GenesCNTROB, KCNAB3, TRAPPC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6096888
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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