A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866000



Internal ID13318177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75393894..75393912hg38UCSC Ensembl
Innerchr17:75393864..75393942hg38UCSC Ensembl
Outerchr17:75393846..75393960hg38UCSC Ensembl
chr17:73389975..73389993hg19UCSC Ensembl
Innerchr17:73389945..73390023hg19UCSC Ensembl
Outerchr17:73389927..73390041hg19UCSC Ensembl
chr17:70901570..70901588hg18UCSC Ensembl
Innerchr17:70901618..70901540hg18UCSC Ensembl
Outerchr17:70901522..70901636hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369141
Supporting Variants
SamplesNA12005
Known GenesGRB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866000
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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