A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9674847



Internal ID13099526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73415161..73415180hg38UCSC Ensembl
Innerchr17:73415157..73415184hg38UCSC Ensembl
Outerchr17:73415138..73415203hg38UCSC Ensembl
chr17:71411300..71411319hg19UCSC Ensembl
Innerchr17:71411296..71411323hg19UCSC Ensembl
Outerchr17:71411277..71411342hg19UCSC Ensembl
chr17:68922895..68922914hg18UCSC Ensembl
Innerchr17:68922918..68922891hg18UCSC Ensembl
Outerchr17:68922872..68922937hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414376
Supporting Variants
SamplesNA12287
Known GenesSDK2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9674847
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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