A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865997



Internal ID13318175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73074048..73074060hg38UCSC Ensembl
Innerchr17:73074025..73074083hg38UCSC Ensembl
Outerchr17:73074013..73074095hg38UCSC Ensembl
chr17:71070187..71070199hg19UCSC Ensembl
Innerchr17:71070164..71070222hg19UCSC Ensembl
Outerchr17:71070152..71070234hg19UCSC Ensembl
chr17:68581782..68581794hg18UCSC Ensembl
Innerchr17:68581817..68581759hg18UCSC Ensembl
Outerchr17:68581747..68581829hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443813
Supporting Variants
SamplesNA12005
Known GenesSLC39A11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865997
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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