A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865979



Internal ID12971481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48802120..48802154hg38UCSC Ensembl
Innerchr17:48802069..48802205hg38UCSC Ensembl
Outerchr17:48802035..48802239hg38UCSC Ensembl
chr17:46879482..46879516hg19UCSC Ensembl
Innerchr17:46879431..46879567hg19UCSC Ensembl
Outerchr17:46879397..46879601hg19UCSC Ensembl
chr17:44234481..44234515hg18UCSC Ensembl
Innerchr17:44234566..44234430hg18UCSC Ensembl
Outerchr17:44234396..44234600hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353026
Supporting Variants
SamplesNA12005
Known GenesTTLL6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865979
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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