A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865982



Internal ID13318165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56400435..56400440hg38UCSC Ensembl
Innerchr17:56400437..56400438hg38UCSC Ensembl
Outerchr17:56400433..56400442hg38UCSC Ensembl
chr17:54477796..54477801hg19UCSC Ensembl
Innerchr17:54477798..54477799hg19UCSC Ensembl
Outerchr17:54477794..54477803hg19UCSC Ensembl
chr17:51832795..51832800hg18UCSC Ensembl
Innerchr17:51832797..51832798hg18UCSC Ensembl
Outerchr17:51832793..51832802hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377290
Supporting Variants
SamplesNA12005
Known GenesANKFN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865982
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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